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MRCP part 1 > Renal > Flashcards

Renal Flashcards

1
Q

Describe the 3 zones of the adrenals and what hormones they produce

A

Adrenal cortex (mnemonic GFR - ACD)
• Zona Glomerulosa (on outside): mineralocorticoids, mainly Aldosterone
• Zona Fasciculata (middle): glucocorticoids, mainly Cortisol
• Zona Reticularis (on inside): androgens, mainly Dehydroepiandrosterone (DHEA)

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2
Q

Describe the renin - angiotensin - aldosterone system

  • Where is renin released from and why
  • what does this do
  • what happens to angiotensin and where does this take place
  • what does this result in
  • where is aldosterone released from and why
  • what does this cause
A

Renin
• Released by JGA cells in kidney in response to ↓ renal perfusion, low sodium
• Hydrolyses angiotensinogen to form angiotensin I

Angiotensin
• ACE in lung converts angiotensin I → angiotensin II
• Vasoconstriction leads to raised BP
• Stimulates thirst
• Stimulates aldosterone and ADH release

Aldosterone
• Released by the zona glomerulosa in response to raised angiotensin II, potassium, and ACTH levels
• Causes retention of Na+ in exchange for K+/H+ in distal tubule

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3
Q

what factors stimulate renin secretion?

A 
Factors stimulating renin secretion
• ↓ BP → ↓ renal prefusion
• Hyponatremia
• Sympathetic nerve stimulation
• Catecholamines
• Erect posture
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4
Q

what factors reduce renin secretion?

A

Factors reducing renin secretion
• β-blockers
• NSAIDS

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5
Q

what urinalysis is shown:

• Few RBCs (of normal morphology)
• Fine grandular cast or hyaline cast
or
-Dysmorphic RBCs 
or
 -WBCs+whitecellcast
or
• Red cell casts
A

Normal
• Few RBCs (of normal morphology)
• Fine grandular cast or hyaline cast

Glomerular Disease
-Dysmorphic RBCs

UTI and Pylonephritis
-WBCs+whitecellcast

Glomerulonephritis
• Red cell casts

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6
Q 
what happens to:
Vit D
Phosphate
Calcium
Parathyroid hormone
in kidney disease
A

• Low vitamin D (1-α hydroxylation normally occurs in the kidneys)
• High phosphate due to ↓ execretion.
• Low calcium: due to lack of vitamin D,
high phosphate
• Secondary hyperparathyroidism: due to
low calcium, high phosphate and low vitamin D

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7
Q

What clinical manifestation may result from:

-hyperparathyroidism in kidney disease

A

Osteitis fibrosa cystica
o AKA hyperparathyroid bone disease

• Adynamic bone disease
o Reduction in cellular activity (both osteoblasts
and osteoclasts) in bone
oMay be due to over treatment with vitamin D

• Osteomalacia
o Due to low vitamin D

  • Osteosclerosis
  • Osteoporosis
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8
Q

describe the management of anaemia in CKD

  • what level should ferritin be before starting EPO?
  • what is the Hb target
  • why should the Hb not be too high
  • why should the Hb not be too low
A

Management:
• Correction o iron with IV if needed
• Ferritin should be > 200 ng/mL before starting EPO
• EPO is used to target Hb 10-12 (>11 or hematocrit >33%) reach the target within 4 months
• Corrected Hb of > 13.5 is associate with HTN crisis
• Hb < 10.5 ↑ risk of seizures.

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9
Q

what is EPO

  • what does it do?
  • what are it’s main uses?
A

Erythropoietin: (EPO) is a hematopoietic growth factor that stimulates the production of erythrocytes. The main uses of erythropoietin are to treat the anemia associated with chronic renal failure and that associated with cytotoxic therapy

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10
Q

what are the 8 side effects assoc with EPO

A

• HTN and HTN crisis, potentially → encephalopathy and seizures (BP ↑ in 25% of patients)
• EPO induced seizures occurs after 90 days from starting the treatment
• Bone aches
• Flu-like symptoms
• Skin rashes, urticaria
• Pure red cell aplasia* (due to antibodies against erythropoietin)
(*the risk is greatly ↓ with darbepoetin)
• Raised packed cell volume (PCV) =HCT → ↑ risk of thrombosis (e.g. Fistula)
• Iron deficiency 2nd to ↑ erythropoiesis

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11
Q

why may patients fail to respond with EPO?

A
  • Iron deficiency
  • Inadequate dose
  • Concurrent infection/inflammation
  • Hyperparathyroid bone disease
  • Aluminum toxicity
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12
Q

how long can EPO be detected in urine until?

A

EPO can be detected in urine for few weeks after the latest dose

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13
Q

what are 5 indications for urgent dialysis?

A
  • Severe acidosis
  • Pulmonary edema due to volume overload
  • Hyperkalemia
  • Uremic pericarditis
  • Severe uremic symptoms: Encephalopathy/Vomiting
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14
Q

what is hyperacute graft rejection due to in renal transplantation?

  • what antibody mediates this?
  • is this common?
A

Hyperacute graft rejection is due to pre-existent antibodies to HLA antigens and is therefore IgG
mediated

  • Due to antibodies against donor HLA type 1 antigens
  • Rarely seen due to HLA matching
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15
Q

describe the 1 and 10 year survival rate for cadaveric transplants vs living-donar transplants

A

Graft survival
• 1 year = 90%, 10 years = 60% for cadaveric transplants
• 1 year = 95%, 10 years = 70% for living-donor transplants

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16
Q

what are 6 post-op problems up to 4 months post-op in renal transplant?

A

Post-op problems (can cause graft dysfunction) – up to 4 months post-op:
• Acute rejection: risk is great in 1st 2 weeks occurs in 30-50% of cases
• Ciclosporin toxicity
• ATN of graft
• Vascular thrombosis
• Urine leakage
• UTI

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17
Q

describe the management of acute graft failure <6mths

A

Management of acute graft failure (< 6 months)

• Acute rejection: give steroids, if resistant use monoclonal antibodies

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18
Q

what are 3 causes of chronic graft failure i.e. >6mths?

A

Causes of chronic graft failure (> 6 months)
• Chronic allograft nephropathy
• Ureteric obstruction
• Recurrence of original renal disease (Mesangiocapillary glomerulonephritis > IgA > Focal segmental glomerulosclerosis)

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19
Q

Autosomal dominant polycystic kidney disease:

-what 2 disease loci have been identified and what do these code for?

A

Autosomal Dominant Polycystic Kidney Disease: (ADPKD) is the most common inherited cause of kidney disease, affecting 1 in 1,000 Caucasians. Two disease loci have been identified, PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively

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20
Q

Autosomal dominant polycystic kidney disease type 1:

  • what percentage of cases
  • which chromosome
  • how does this present?
A

85% cases
chromosome 16
presents with renal failure early

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21
Q

Autosomal dominant polycystic kidney disease type 2:

  • what percentage of cases
  • which chromosome
A

15%

chromosome 4

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22
Q

what is the diagnosis of ADPKD?

A
  • In < 20 yrs age, CT scan is not needed
  • In < 20 yrs age, ultrasound gives false –ve
  • 2 cysts, unilateral or bilateral, if aged < 30 years
  • 2 cysts in both kidneys if aged 30-59 years
  • 4 cysts in both kidneys if aged > 60 years
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23
Q

what are assoc. conditions with ADPKD:

A

Associated conditions:
• Colonic diverticula (with any related symptoms, screen by barium enema)
• Mitral Valve Prolapse (needs echo screening)
• Berry aneurysms

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24
Q

what is the management of adult polycystic kidney disease?

A 
Management:
• Painkillers
• Urinary tract infections: → ABX
• ↑BP control
• End-stage renal disease → Transplantation

For select patients, tolvaptan (vasopressin receptor 2 antagonist) may be an option. NICE recommended it as an option for treating ADPKD in adults to slow the progression of cyst development and renal insufficiency only if:
they have chronic kidney disease stage 2 or 3 at the start of treatment
there is evidence of rapidly progressing disease and
the company provides it with the discount agreed in the patient access scheme

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25
Q

Autosomal Recessive Polycystic Kidney Disease (ARPKD):

  • common?
  • chromosome?
A

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is much less common than autosomal dominant disease (ADPKD). It is due to a defect in a gene located on chromosome 6

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26
Q

what is the diagnosis of Autosomal Recessive Polycystic Kidney Disease

  • what is the progression of disease?
  • what other organ is typically involved?
A

Diagnosis may be made on prenatal ultrasound or in early infancy with abdominal masses and renal failure. End-stage renal failure develops in childhood. Patients also typically have liver involvement, for example portal and interlobular fibrosis

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27
Q

what is the triad of nephrotic syndrome?

What is nephritic syndrome?

A

Nephrotic

  1. Proteinuria (> 3g/24hr) causing
  2. Hypoalbuminemia (< 30g/L) and
  3. Edema

Nephritic: haematuria, hypertension

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28
Q

In nephrotic syndrome:

  • why does this predispose to thrombosis?
  • what happens to thyroxin levels?
A

Loss of antithrombin-III (↑↑↑), proteins C and S and associated rise in fibrinogen levels
predispose to thrombosis. Loss of TBG lowers total, but not free thyroxin levels

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29
Q

what are the 4 main causes of nephrotic syndrome?

A
  1. Glomerulonephritis (GN, c. 80%)
    • Minimal change GN (causes 75% in children, 25% in adults)
    • Membranous GN
    • Focal Segmental GlomeruloSclerosis
  2. Systemic disease (c. 20%)
    • Amyloidosis
    • SLE
  3. Drugs
    • Gold (sodium aurothiomalate), penicillamine
  4. Others
    • Congenital
    • Neoplasia: carcinoma, lymphoma, leukemia, myeloma
    • Infection: bacterial endocarditis, hepatitis B, malaria
    • Renal vein thrombosis
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30
Q

what are the 5 complications of nephrotic syndrome?

A

• ↑ risk of infection due to urinary immunoglobulin loss
• ↑ risk of thromboembolism related to loss of antithrombin III and plasminogen in the urine
• Hyperlipidemia
• Hypocalcemia (vitamin D and binding protein lost in urine)
• Acute renal failure could be due to thrombotic renal veins it comes with lion pain and
hematuria.

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31
Q

What is the disease?

  • Presentation: proteinuria / nephrotic syndrome / CRF
  • Cause: infections, rheumatoid drugs, malignancy
  • 1/3 resolve, 1/3 respond to cytotoxics, 1/3 develop CRF
A

Membranous glomerulonephritis

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32
Q

What is the disease?

  • Typically young adult with hematuria following an URTI
  • Associated with Henoch-Schonlein purpura
  • Mesangial hypercellularity (mesangioproliferative)
A

IgA nephropathy - AKA Berger’s disease, mesangioproliferative GN

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33
Q

what is the disease?

  • Classical post-streptococcal glomerulonephritis in child
  • Presents as nephritic syndrome / ARF
  • Most common form of renal disease in SLE (IV)
A
  1. Diffuse proliferative glomerulonephritis
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34
Q

what is the disease?

  • Typically a child with nephrotic syndrome (accounts for 80%)
  • Causes: Hodgkin’s, NSAIDs
  • Good response to steroids
A
  1. Minimal change disease
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35
Q

what is the disease?

  • May be idiopathic or secondary to HIV, heroin
  • Presentation: proteinuria / nephrotic syndrome / CRF
A
  1. Focal segmental glomerulosclerosis
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36
Q

what is the disease?

  • Rapid onset, often presenting as ARF
  • Causes include Goodpasture’s, ANCA positive vasculitis (e.g. Wegener’s granulomatosis)
A
  1. Rapidly progressive glomerulonephritis (RPGN) - AKA Crescentic Glomerulonephritis
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37
Q

what is the disease?

  • Type 1: cryoglobulinemia, hepatitis C → associated with low C4
  • Type 2: partial lipodystrophy → associated with low C3
A
  1. Mesangiocapillary glomerulonephritis (membranoproliferative)
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38
Q

what 4 diseases are assoc. with glomerulonephritis and low serum C3 levels?

A
  • Post-streptococcal glomerulonephritis
  • Subacute bacterial endocarditis
  • Systemic lupus erythematosus
  • Mesangiocapillary glomerulonephritis
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39
Q

how common is membranous glomerulonephritis?

-how does this usually present?

A

Membranous glomerulonephritis is the commonest type of glomerulonephritis in adults and is the third most common cause of end-stage renal failure (ESRF). It usually presents as nephrotic syndrome or proteinuria

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40
Q

what does renal biopsy show in membranous glomerulonephritis?

A

Renal biopsy demonstrates:
• Sub-epithelial immune complex (mainly IgG and C3) deposition in the glomerulus
• Electron microscopy: the basement membrane is thickened with sub-epithelial electron dense
deposits (IgG, C3)

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41
Q

what are the causes of membranous glomerulonephritis:

  • infections?
  • malignancies?
  • drugs?
  • autoimmune disease?
A

Causes
idiopathic: due to anti-phospholipase A2 antibodies
infections: hepatitis B, malaria, syphilis
malignancy (in 5-20%): prostate, lung, lymphoma, leukaemia
drugs: gold, penicillamine, NSAIDs
autoimmune diseases: systemic lupus erythematosus (class V disease), thyroiditis, rheumatoid

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42
Q

what is the prognosis for membranous glomerulonephritis?

A

Prognosis - rule of thirds
• One-third: spontaneous remission
• One-third: remain proteinuric
• One-third: develop ESRF

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43
Q

describe the management in membranous glomerulonephritis?

A

Management
all patients should receive an ACE inhibitor or an angiotensin II receptor blocker (ARB):
these have been shown to reduce proteinuria and improve prognosis

immunosuppression
as many patients spontaneously improve only patient with severe or progressive disease require immunosuppression

corticosteroids alone have not been shown to be effective. A combination of corticosteroid + another agent such as cyclophosphamide is often used

consider anticoagulation for high-risk patients

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44
Q

IgA nephropathy:

  • AKA?
  • common?
  • what is the pathogenesis?
  • what is seen on histology?
A
  • Also called Berger’s disease or mesangioproliferative glomerulonephritis
  • Commonest cause of glomerulonephritis worldwide
  • Pathogenesis unknown, ?Mesangial deposition of IgA immune complexes
  • Histology: mesangial hypercellularity, positive immunofluorescence for IgA & C3
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45
Q

differentiating between IgA nephropathy and post-streptococcal glomerulonephritis (diffuse proliferative)

  • complement level
  • main symptom
  • what precedes renal problems?
A

• Post-streptococcal glomerulonephritis is associated with low complement levels
• Main symptom in post-streptococcal glomerulonephritis is proteinuria (although hematuria can
occur)
• There is typically an interval between URTI and the onset of renal problems in post-
streptococcal glomerulonephritis

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46
Q

what are the main features of IgA nephropathy:

  • what age of patients are affected?
  • what is seen in the urine?
  • what is this typically assoc. with?
  • is there proteinuria?
A
  • Young ♂, recurrent episodes of Hematuria, usually painless (sometimes with no renal impairment)
    • Typically associated with mucosal infections e.g., URTI
  • Nephrotic range proteinuria is rare, presents as nephritic syndrome
  • Renal failure
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47
Q

what conditions are assoc. with IgA nephropathy?

A

Associated conditions
• Alcoholic cirrhosis
• Celiac disease/dermatitis herpetiformis

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48
Q

what is the management for IgA nephropathy?

A

Management

• Steroids/immunosuppressants have not shown to be useful

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49
Q

what is the prognosis of IgA Nephropathy?

  • what are good prognostic indicators?
  • what are poor prognostic indicators?
A

• 25% of patients develop ESRF
• Markers of good prognosis: frank hematuria
• Markers of poor prognosis: ♂ gender, proteinuria (especially > 2 g/day), hypertension,
smoking, hyperlipidemia, ACE genotype DD

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50
Q

how does minimal change glomerulonephritis present? is this common?

A

Minimal Change Glomerulonephritis nearly always presents as nephrotic syndrome, accounting for 75% of cases in children and 25% in adults

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51
Q

what are the different causes of minimal change glomerulonephritis?

A

Causes: majority of cases are idiopathic, but in around 10-20% a cause is found:
• Drugs: NSAIDs, rifampicin
• Hodgkin’s lymphoma, NHL and thymoma
• Infectious mononucleosis

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52
Q

what are 5 features of minimal change glomerulonephritis?

A

Features
• Nephrotic syndrome
• Normotension - hypertension is rare
• Hematuria is very rare
• Highly selective proteinuria*
(*only intermediate-sized proteins such as albumin and transferrin leak through the glomerulus)
• Renal biopsy: electron microscopy shows fusion of podocytes

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53
Q

what 2 conditions is podocyte fusion seen in?

A

Podocyte fusion is seen in minimal change glomerulonephritis but may occasionally be a feature
of focal segmental glomerulosclerosis as well. Minimal change however is far more common

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54
Q

what is included in the management of minimal change glomerulonephritis?

A

Management
• Majority of cases (80%) are steroid responsive (prednisolone)
• Cyclophosphamide is the next step for steroid resistant cases

ACE inhibitors may be used to ↓ proteinuria in patients with heavy proteinuria or who have a slow response to prednisolone

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55
Q

what is the prognosis of minimal change glomerulonephritis?

A

Prognosis is overall good, although relapse is common. Roughly:
• 1/3 have just one episode
• 2/3 have relapses:
o 1/3 have infrequent relapses
o 1/3 have frequent relapses which stop before adulthood

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56
Q

Mesangiocapillary Glomerulonephritis:

  • what is this AKA?
  • how may this present?
A
  • AKA membranoproliferative glomerulonephritis
  • Mixed nephritic/nephrotic presentation
  • Poor prognosis
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57
Q

what 3 types of mesangiocapillary glomerulonephritis exist?

-what are the causes of each one?

A

Type 1:
• Subendothelial immune deposits
• Cause: Cryoglobulinemia (with low C4), hepatitis C

Type 2 ‘dense deposit disease’:
• Intramembranous deposits of electron dense material • Causes: partial lipodystrophy, factor H deficiency • ↓ serum complement
• C3b nephritic factor (an antibody against C3bbb)
found in 70% (low C3)

Type 3
• Causes: hepatitis B and C

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58
Q

what is the management of mesangiocapillary glomerulonephritis?

A

Management

• Steroids may be effective

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59
Q

Focal segmental glomerulosclerosis
how does this present?
name 6 causes?
when does this have a high recurrence rate?

A

nephrotic syndrome

Causes
• Idiopathic
• Secondary to other renal pathology e.g. IgA nephropathy, reflux nephropathy
• HIV
• Heroin
• Alport's syndrome
• Sickle-cell
Focal segmental glomerulosclerosis is noted for having a high recurrence rate in renal transplants
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60
Q

How is alport’s syndrome inherited?

  • what is the due to?
  • is this more severe in males or females?
A

Alport’s Syndrome is usually inherited in an X-linked dominant pattern*. It is due to a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM). The disease is more severe in ♂s with ♀s rarely developing renal failure

*in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing

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61
Q

Give 7 risk factors for renal stones

A 
Risk factors
• Dehydration
• Hypercalciuria, hyperparathyroidism, hypercalcemia
• Cystinuria NOT CYSTINOSIS
• High dietary oxalate
• Renal tubular acidosis
• Medullary sponge kidney, polycystic kidney disease
• Beryllium or cadmium exposure
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62
Q

give 2 risk factors for urate renal stones

A

Risk factors for urate stones
• Gout
• Ileostomy: loss of bicarbonate and fluid results in acidic urine, causing the precipitation of uric acid

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63
Q

give 2 drug causes of renal stones

A

Drug causes
• Drugs that promote calcium stones: loop diuretics, steroids, acetazolamide, theophylline
• Thiazides can prevent calcium stones (↑ distal tubular calcium resorption)

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64
Q

Give the frequency and radiograph appearance of:

  • Calcium oxalate stones
  • Mixed calcium oxalate/phosphate stones
  • Triple phosphate stones
  • Calcium phosphate
  • Urate stones
  • Cystine stones
  • Xanthine stones
A

Calcium oxalate, 40%, Opaque

Mixed calcium oxalate/phosphate stones, 25%, Opaque

Triple phosphate stones, 10%, Opaque

Calcium phosphate, 10%, Opaque

Urate stones, 5-10%, Radio-lucent

Cystine stones 1% Semi-opaque, ‘ground-glass’ appearance

Xanthine stones, <1%, Radio-lucent

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65
Q

what is a staghorn calculus?

  • what do they involve?
  • what pH urine do they develop in?
  • what predisposes to their formation?
A

stag-horn calculi involve the renal pelvis and extend into at least 2 calyces. They develop in alkaline urine and are composed of struvite (ammonium magnesium phosphate, triple phosphate). Ureaplasma urealyticum and Proteus infections predispose to their formation

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66
Q

what analgesia is given for renal colic?

A

Acute management of renal colic
Diclofenac 75 mg by intramuscular injection is the analgesia of choice for renal colic. A second dose can be given after 30 minutes if necessary. (PR diclofenac is an alternative)

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67
Q

what can be done in the prevention of calcium stones?

A

Calcium stones
• High fluid intake
• Low animal protein, low salt diet (a low calcium diet has not been shown to be superior to a
normocalcemic diet)
• Thiazide diuretics (↑ distal tubular calcium resorption)
• Stones < 5 mm will usually pass spontaneously
• Lithotripsy, nephrolithotomy may be required

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68
Q

what can be done in the prevention of oxolate stones?

A
  • Cholestyramine ↓ urinary oxalate secretion

* Pyridoxine ↓ urinary oxalate secretion

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69
Q

what can be done in the prevention of urate stones?

A
  • Allopurinol

* Urinary alkalinization e.g. Oral bicarbonate

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70
Q

what are the 5 stages of diabetic nephropathy in T1DM?

A

Stage 1
• Hyperfiltration: ↑ in GFR (60-140 ml/min/1.73m2)
• May be reversible

Stage 2 (silent or latent phase)
• Most patients do not develop microalbuminuria for 10 years
• GFR remains elevated
Stage 3 (incipient nephropathy)
• Microalbuminuria (albumin excretion of 30 - 300 mg/day, dipstick negative)

Stage 4 (overt nephropathy)
• Persistent proteinuria (albumin excretion > 300 mg/day, dipstick positive)
• Hypertension is present in most patients
• Histology shows diffuse glomerulosclerosis and focal glomerulosclerosis (kimmelstiel-wilson
nodules)

Stage 5
• End-stage renal disease, GFR typically < 10ml/min
• Renal replacement therapy needed

(The timeline given here is for type 1 diabetics. Patients with type 2 diabetes mellitus (T2DM) progress through similar stages but in a different timescale - some T2DM patients may progress quickly to the later stages)

71
Q

what is the screening for diabetic nephropathy and who should get it?

A

Screening
• All patients should be screened annually
• Albumin:Creatinine ratio (ACR) in early morning specimen
• ACR > 2.5 = microalbuminuria

72
Q

what is the management of diabetic nephropathy?

A

Management
• Dietary protein restriction
• Tight glycemic control
• BP control: aim for < 130/80 mmHg
• Benefits independent of blood pressure control have been demonstrated for ACE inhibitors and
angiotensin II receptor blockers - these may be used alone or in combination
• Control dyslipidemia e.g. Statins

73
Q

how is an ACR sample collected?

What is a clinically significant ACR in non-diabetics and in diabetics?

A

Collecting an ACR sample
• By collecting a ‘spot’ sample it avoids the need to collect urine over a 24 hour period in order to detect or quantify proteinuria
• Should be a first-pass morning urine specimen
• If the initial ACR is greater than 30 mg/mmol and less than 70 mg/mmol, confirm by a
subsequent early morning sample.
If the initial ACR > 70 mg/mmol no need to repeat

Interpreting the ACR results
• In non-diabetics an ACR > 30 mg/mmol is considered clinically significant proteinuria
• In diabetics (ACR > 2.5 in men and ACR > 3.5 in women) is considered clinically significant

ACR (mg/mmol)PCR (mg/mmol)Urinary protein excretion (g/24 h)
30 50 0.5

70 100 1

74
Q

what is done if microalbuminuria is newly detected in DM patient?

A

Newly detected microalbuminuria in DM patient → repeat 3-6 months period before starting Rx

75
Q

what is the treatment for microalbuminuria?

A

ACE-I

ARBs

76
Q

what test is used to identify patients with proteinuria and what test can be used to quantify and monitor proteinuria: ACR or PCR?

A

NICE recommend using the albumin:creatinine ratio (ACR) in preference to the protein:creatinine ratio (PCR) when identifying patients with proteinuria as it has greater sensitivity. For quantification and monitoring of proteinuria, PCR can be used as an alternative, although ACR is recommended in diabetics. Urine reagent strips are not recommended unless they express the result as an ACR.

77
Q

why may serum creatinine not provide an accurate estimation of renal function?
-what is the most common equation to calculate eGFR and what variables are used?

A

Serum creatinine may not provide an accurate estimate of renal function due to differences in muscle. For this reason, formulas were developed to help estimate the glomerular filtration rate (estimated GFR or eGFR). The most commonly used formula is the Modification of Diet in Renal Disease (MDRD) equation, which uses the following variables:

serum creatinine
age
gender
ethnicity
78
Q

describe the 5 stages of CKD according to eGFR

A

1 Greater than 90 ml/min, with some sign of kidney damage on other tests (if all the kidney tests* are normal, there is no CKD)

2 60-90 ml/min with some sign of kidney damage (if kidney tests* are normal, there is no CKD)

3a 45-59 ml/min, a moderate reduction in kidney function

3b 30-44 ml/min, a moderate reduction in kidney function

4 15-29 ml/min, a severe reduction in kidney function

5 Less than 15 ml/min, established kidney failure - dialysis or a kidney transplant may be needed

*i.e. normal U&Es and no proteinuria

79
Q

what are 4 causes of transient or spurious non-visible haematuria?

A
  • Urinary tract infection
  • Menstruation
  • Vigorous exercise
  • Sexual intercourse
80
Q

Causes of persistent non-visible haematuria

A
  • Cancer (bladder, renal, prostate)
  • Stones
  • Benign prostatic hyperplasia, Prostatitis.
  • Urethritis e.g. Chlamydia
  • Renal causes: IgA nephropathy, thin basement membrane disease
81
Q

what tests can be used to detect haematuria?

A

• Urine dipstick is the test of choice for detecting hematuria
• Urine microscopy may be used but time to analysis significantly affects the number of red
blood cells detected

82
Q

what are the three criteria an urgent cancer referral should be made in haematuria?

A

NICE urgent cancer referral guidelines
• Of any age with painless macroscopic hematuria
• Aged 40 years and older who present with recurrent or persistent urinary tract infection
associated with hematuria
• Aged 50 years and older who are found to have unexplained microscopic hematuria

83
Q

what is fanconi syndrome?

-what are the 5 features of this?

A

Fanconi syndrome describes a generalised reabsorptive disorder of renal tubular transport in the proximal convoluted tubule resulting in:

    type 2 (proximal) renal tubular acidosis
    polyuria
    aminoaciduria
    glycosuria
    phosphaturia
    osteomalacia
84
Q

what are the 5 causes of fanconi syndrome?

A
  • Cystinosis (most common cause in children)
  • Sjogren’s syndrome
  • Multiple myeloma
  • Nephrotic syndrome
  • Wilson’s disease
85
Q

what is found on ABG for renal tubular acidosis?

A

Renal Tubular Acidosis (RTA) all types of renal tubular acidosis (RTA) are associated with hyperchloremic metabolic acidosis (normal anion gap)

86
Q

what is type 1 renal tubular acidosis?

  • what is this caused by?
  • what happens to potassium?
  • what complications can occur?
  • what are 4 causes?
A

• Inability to generate acid urine (secrete H+) in distal tubule
• Hypokalemia
• Complications include nephrocalcinosis and
renal stones
• Causes include idiopathic, RA, SLE, Sjogren’s

87
Q

what is type 2 renal tubular acidosis?

  • what is this caused by?
  • what happens to potassium?
  • what are the causes?
  • how is this treated?
A

• ↓ HCO3- reabsorption in proximal tubule
• Hypokalemia
• Complications include osteomalacia
• Causes include idiopathic, as part of Fanconi
syndrome, Wilson’s disease, cystinosis,
outdated tetracyclines
• Treat: Bicarb replacement + Thiazide diuretics

88
Q

what is type 4 renal tubular acidosis?

  • what is this caused by?
  • what happens to potassium?
A

Type 4 RTA (hyperkalemic RTA) is not actually a tubular disorder at all nor does it have a clinical picture similar to the other RTAs. It was included in the classification of RTA as it is associated with a mild (normal anion gap) metabolic acidosis due to a physiological ↓ in proximal tubular ammonium excretion.
hyperkalaemic

89
Q

what are 3 causes of type 4 RTA

A

Causes include:
• Aldosterone deficiency (hypoaldosteronism): Primary vs. hyporeninemic
• Aldosterone resistance:
o Drugs: Amiloride, Spironolactone, Trimethoprim, Pentamidine
o Pseudohypoaldosteronism
• DM

90
Q

what is type 3 RTA?

A

Type 3 RTA (Juvenile RTA) is combined proximal & distal RTA.

91
Q

type 3 RTA

  • what is this caused by?
  • what are the 4 features of this syndrome?
A

Features:
• Results from inherited carbonic anhydrase II deficiency.
• Mutations in the gene encoding this enzyme give rise to:
o Autosomal recessive syndrome of osteopetrosis
o Renal tubular acidosis
o Cerebral calcification
o Mental retardation.
• 70% of the reported cases are from the Magreb region of North Africa

92
Q

what is pre-renal uraemia?

A

Prerenal uraemia - kidneys hold on to sodium to preserve volume

93
Q

Compare pre-renal uraemia (‘azotemia”0 vs Acute tubular necrosis:

Urine sodium	
Urine osmolality
Fractional sodium excretion
Response to fluid challenge	
Serum urea:creatinine ratio	
Fractional urea excretion
Urine:plasma osmolality	
Urine:plasma urea	
Specific gravity	
Urine
A

Pre-renal uraemia (‘azotemia’) ATN
Urine sodium < 20 mmol/L > 40 mmol/L
Urine osmolality > 500 mOsm/kg < 350 mOsm/kg
Fractional sodium excretion* < 1% > 1%
Response to fluid challenge Good Poor
Serum urea:creatinine ratio Raised Normal
Fractional urea excretion** < 35% >35%
Urine:plasma osmolality > 1.5 < 1.1
Urine:plasma urea > 10:1 < 8:1
Specific gravity > 1020 < 1010
Urine Normal/ ‘bland’ sediment Brown granular casts

94
Q

give 5 causes of papillary necrosis?

A
  • Chronic analgesia use
  • Sickle cell disease
  • TB
  • Acute pyelonephritis
  • Diabetes Mellitus
95
Q

what are the features of papillary necrosis:

  • 3 symptoms
  • what is found on IVU?
A

Features
• Fever, loin pain, hematuria
• IVU (intravenous urogram or IVP for pyelogram) - papillary necrosis with renal scarring - ‘cup
& spill’

96
Q

what can the below all lead to?

  • Partially treated UTI
  • Urethritis e.g. Chlamydia, TB and ureaplasma urealyticum
  • Renal tuberculosis
  • Renal stones
  • Appendicitis
  • Bladder/renal cell cancer
  • Adult polycystic kidney disease
  • Analgesic nephropathy
A

sterile pyuria

Tubulo-interstitial nephritis may cause sterile pyuria but it is not seen with acute glomerulonephritis

97
Q

what is renal cell ca known as?

-what does this arise from?

A

Renal Cell Cancer is also known as hypernephroma and accounts for 85% of primary renal neoplasms. It arises from proximal renal tubular epithelium

98
Q

what are 4 assoc. of renal cell ca

A 
Associations*
• More common in middle-aged men
• Smoking
• Von hippel-lindau syndrome
• Tuberous sclerosis
99
Q

what is the diagnosis of renal cell ca?

A

Diagnosis:

• CT scan ± contrast shows contrast enhancing mass

100
Q

what are the features of renal cell ca?

  • classical triad
  • fever?
  • testicular problems
  • endocrine effects
  • mets?
A

Features
• Classical triad: hematuria, loin pain, abdominal mass
• Pyrexia of unknown origin
• Left varicocele (due to occlusion of left testicular vein)
• Endocrine effects: may secrete erythropoietin (polycythemia), parathyroid hormone
(hypercalcemia), renin, ACTH
• 25% have metastases at presentation

101
Q

what is the management of renal cell ca?

A

Management
• Radical nephrectomy for confined disease
• α-interferon and interleukin-2 have been used to ↓ tumor size and also treat patients with
metastases
• Receptor tyrosine kinase inhibitors (e.g. Sorafenib, sunitinib) have been shown to have superior
efficacy compared to interferon-α

102
Q

who does Wilm’s tumour affect?

-where is it found and what is the origin?

A

Wilm’s Tumor (Nephroblastoma) is one of the most common childhood malignancies. It typically presents in children less than 5 years of age, with a median age of 3 years.

103
Q

what are the 6 features of wilm’s tumour?

A
  • Abdominal mass (most common presenting feature)
  • Painless hematuria
  • Flank pain
  • Other features: anorexia, fever
  • Unilateral in 95% of cases
  • Metastases are found in 20% of patients (most commonly lung)
104
Q

what are 4 assoc. of wilm’s tumour?

A
  • Beckwith-Wiedemann syndrome is a inherited condition associated with organomegaly, macroglossia, abdominal wall defects, Wilm’s tumor and neonatal hypoglycemia
  • As part of WAGR syndrome: Wilms Aniridia, Genitourinary malformations, mental Retardation. It results from a deletion on chromosome 11 resulting in the loss of several genes.
  • Hemihypertrophy
  • Around one-third of cases are associated with a mutation in the WT1 gene on chromosome 11
105
Q

where does wilm’s tumour metastasise to and what does this look like?

A

most common metastatic/secondary tumor that produce a solitary round shadow in chest cavity is renal in origin

106
Q

what is the management of wilm’s tumour?

A 
Management
• Nephrectomy
• Chemotherapy
• Radiotherapy if advanced disease
• Prognosis: good, 80% cure rate
107
Q

what is the most common cause of renal vascular disease?

-what needs to be considered in younger patients?

A

Renal Vascular Disease is most commonly due to atherosclerosis (> 95% of patients). It is associated with risk factors such as smoking and hypertension that cause atheroma elsewhere in the body. In younger patients however fibromuscular dysplasia (FMD) needs to be considered.

108
Q

how may renal vascular disease present?

A

It may present as hypertension, chronic renal failure or ‘flash’ pulmonary edema.

109
Q

FMD: who is this most common in? what is the appearance on angiography? what is the treatment?

A

FMD is more common in young women and characteristically has a ‘string of beads’ appearance on angiography. Patients respond well to balloon angioplasty. Its response to balloon angioplasty is better than atherosclerosis.

110
Q

what may occur as a result of hyperaldosteronism in renal vascular disease?

A

Hypokalemia and metabolic alkalosis may occur due to compensatory hyperaldosteronism.

111
Q

what are the investigations in renal vascular disease?

A

• MR angiography is now the investigation of choice
• CT angiography
• Conventional renal angiography is less commonly performed used nowadays, but may still have
a role when planning surgery

112
Q

what does:
Flash pulmonary edema, U&Es worse on ACE inhibitor, asymmetrical kidneys
make you think of, and what is the investigation?

A

Renal Artery Stenosis
↓
do MR angiography

113
Q

why does kidney disease occur in HIV patients?

A

Renal involvement in HIV patients may occur as a consequence of treatment or the virus itself. Protease inhibitors such as indinavir can precipitate intratubular crystal obstruction

114
Q

what are the five key features of HIV assoc. nephropathy?

A

HIV-associated nephropathy (HIVAN) accounts for up to 10% of end-stage renal failure cases in the United States. Antiretroviral therapy has been shown to alter the course of the disease. There are five key features of HIVAN:
• Massive proteinuria
• Normal or large kidneys
• Focal segmental glomerulosclerosis with focal or global capillary collapse on renal biopsy
• Elevated urea and creatinine
• Normotension

115
Q

what are the 6 WHO classification of renal complications in SLE?

A
  • Class I: normal kidney
  • Class II: mesangial glomerulonephritis
  • Class III: focal (and segmental) proliferative glomerulonephritis
  • Class IV: diffuse proliferative glomerulonephritis
  • Class V: diffuse membranous glomerulonephritis
  • Class VI: sclerosing glomerulonephritis

Class IV (diffuse proliferative glomerulonephritis) is the most common and severe form of proliferative GN

116
Q

what is the management of renal complications in SLE?

A
  • Treat hypertension
  • Corticosteroids if clinical evidence of disease
  • Immunosuppressants e.g. Azathioprine/cyclophosphamide
117
Q

what 2 drugs are useful in treating HTN in renal disease?

A

ACE inhibitors are first line and are particularly helpful in proteinuric renal disease (e.g. diabetic nephropathy). As these drugs tend to ↓ filtration pressure a small fall in glomerular filtration pressure (GFR) and rise in creatinine can be expected. Most nephrologists would accept a change of up to 15%. A rise greater than this may indicate underlying renovascular disease.

Furosemide is useful as anti-hypertensive in patients with CKD, particularly when the GFR falls to below 45 ml/min*. It has the added benefit of lowering serum potassium. High doses are usually required. If the patient becomes at risk of dehydration (e.g. Gastroenteritis) then consideration should be given to temporarily stopping the drug

*the NKF K/DOQI guidelines suggest a lower cut-off of less than 30 ml/min

118
Q

what is Goodpasture’s syndrome?

  • what is this characterised by?
  • what is this caused by?
A

Goodpasture’s syndrome (AKA anti-glomerular basement membrane disease) Goodpasture’s syndrome is rare condition associated with both pulmonary hemorrhage and rapidly progressive glomerulonephritis. Although many diseases can present with these symptoms, the name Goodpasture’s syndrome is usually reserved for the autoimmune disease triggered when the patient’s immune system attacks Goodpasture antigen (a type II hypersensitivity reaction), which is found in the kidney and lung, and in time, causing damage to these organs. It is caused by anti-glomerular basement membrane (anti-GBM) antibodies against type IV collagen.

119
Q

Goodpasture’s syndrome:
what deposits are found on renal biopsy?
what antibodies are involved?

A

Goodpasture’s syndrome
• IgG deposits on renal biopsy
• Anti-GBM antibodies

120
Q

Who is Goodpasture’s syndrome more common in and what age? what HLA is this assoc with?

A

Goodpasture’s syndrome is more common in men (sex ratio 2:1) and has a bimodal age distribution (peaks in 20-30 and 60-70 age bracket). Associated with HLA DR2.

121
Q

what are the features of goodpastures syndrome?

A

Features
• Pulmonary hemorrhage
• Followed by rapidly progressive glomerulonephritis

122
Q

what factors increase the likelihood of pulmonary haemorrhage in Goodpasture’s syndrome?

A 
Factors which ↑ likelihood of pulmonary hemorrhage
• Y oung ♂s
• Smoking
• Lower respiratory tract infection
• Pulmonary edema
• Inhalation of hydrocarbons

Dehydration may ↓ the likelihood of a pulmonary hemorrhage. Pulmonary edema is associated
with ↑ risk

123
Q

what are the investigations for goodpastures syndrome?

A

Investigations
• Renal biopsy: linear IgG deposits along basement membrane
• ↑ transfer factor secondary to pulmonary hemorrhages
• Lung biopsy: accumulation of hemosidren laden macrophages with alveoli

124
Q

what is the management of Goodpastures syndrome?

A

Management
• Plasma exchange
• Steroids
• Cyclophosphamide

125
Q

when is HUS seen and what is the triad?

A

Hemolytic Uremic Syndrome is generally seen in young children and produces a triad of:
• Acute renal failure
• Microangiopathic hemolytic anemia
• Thrombocytopenia

126
Q

what are 6 causes of HUS?

A 
Causes
• Post-dysentery - classically E coli 0157:H7 ('verotoxigenic', 'enterohemorrhagic')
• Tumors
• Pregnancy
• Cyclosporine, the Pill
• SLE
• HIV

Other causes of HUS include S. pneumoniae, Shigella (type 1 and 3), HIV and Coxsackie virus

127
Q

what are 3 investigations for HUS and what is seen

A

Investigations
• Full blood count: anemia, thrombocytopenia, fragmented blood film
• U&E: acute renal failure
• Stool culture

128
Q

what is the management of HUS?

A

• Treatment is supportive e.g. Fluids, blood transfusion and dialysis if required
• There is no role for antibiotics, despite the preceding diarrheal illness in many patients
• The indications for plasma exchange in HUS are complicated. As a general rule plasma
exchange is reserved for severe cases of HUS NOT associated with diarrhea

129
Q

what is phenylketonuria

  • how is this inherited?
  • what is this caused by?
  • what does this result in?
  • what chromosome is assoc.?
A

Phenylketonuria (PKU) is an autosomal recessive condition caused by a disorder of phenylalanine metabolism. This is due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine. High levels of phenylalanine lead to problems such as learning difficulties and seizures. The gene for phenylalanine hydroxylase is located on chromosome 12. The incidence of PKU is c. 1 in 10,000 live births

130
Q

what are the 6 features of phenylketonuria?

A
  • Usually presents by 6 months e.g. With developmental delay
  • Child classically has fair hair and blue eyes
  • Learning difficulties
  • Seizures, typically infantile spasms
  • Eczema
  • ‘Musty’ odor to urine and sweat
131
Q

what 3 tests are used to diagnose phenylketonuria?

A
  • Guthrie test: the ‘heel-prick’ test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism
  • Hyperphenylalaninemia
  • Phenylpyruvic acid in urine
132
Q

what is the management of phenylketonuria?

A

• Poor evidence base to suggest strict diet prevents learning disabilities
• Dietary restrictions are however important during pregnancy as genetically normal fetuses may
be affected by high maternal phenylalanine levels

133
Q

what is cystinuria?

  • how is this inherited?
  • what causes this?
A

Cystinuria is an autosomal recessive disorder characterized by the formation of recurrent renal stones. It is due to a defect in the membrane transport of cystine, ornithine, lysine, arginine (mnemonic = COLA)

134
Q

which 2 chromosomes and genes are assoc. with cystinuria?

A

Genetics

• Chromosome 2: SLC3A1 gene, chromosome 19: SLC7A9

135
Q

what are the features of cystinuria?

A

Features
• Recurrent renal stones
• Are classically yellow and crystalline, appearing semi-opaque on x-ray

136
Q

what is the diagnosis of cystinuria?

A

Diagnosis

• Cyanide-nitroprusside test

137
Q

what is the management of cystinuria?

A

Management
• Hydration
• D-penicillamine
• Urinary alkalinization

138
Q

what is homocystinuria?

  • what is this caused by?
  • what does this result in?
A

Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations.

139
Q

what are 6 features of homocystinuria?

A

Features
• Often patients have fine, fair hair
• Musculoskeletal: may be similar to Marfan’s - arachnodactyly etc
• Neurological patients may have learning difficulties, seizures
• Ocular: downwards dislocation of lens (Marfan has upward dislocation of lens)
• ↑ Risk of arterial and venous thromboembolism except coronaries.
• Also malar flush, livedo reticularis

140
Q

what is the diagnosis of homocystinuria?

A

Diagnosis is made by the cyanide-nitroprusside test, which is also positive in cystinuria

141
Q

what is the treatment of homocystinuria?

A

Treatment is vitamin B6 supplements

142
Q

what is Alkaptonuria: (black urine disease or alcaptonuria):

  • how is this inherited?
  • where is this common in the world?
  • what is this due to and what does this result in?
A

Alkaptonuria: (black urine disease or alcaptonuria) Basics:
• Rare inherited genetic disorder of phenylalanine and tyrosine metabolism
• Autosomal recessive
• Common in Slovakia and the Dominican Republic than in other countries.
• Due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the
degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid (or alkapton) accumulates in the blood and is excreted in urine in large amounts. Excessive homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones.

143
Q

Alkaptonuria:

  • sclera?
  • skin?
  • sweat?
  • kidney?
  • joints?
  • heart?
  • ear wax?
A

Alkaptonuria is often asymptomatic, but the sclera may be pigmented (often only at a later age), and the skin may be darkened in sun-exposed areas and around sweat glands; sweat may be colored brown or black. Kidney stones and stone formation in the prostate (in men) are common and may occur in more than a quarter of cases.
The main symptoms of alkaptonuria are due to the accumulation of homogentisic acid in tissues. In the joints this leads to cartilage damage, specifically in the spine, leading to low back pain at a young age in most cases. Cartilage damage may also occur in the hip and shoulder. Joint replacement surgery (hip and shoulder) is often necessary at a relatively young age.
Valvular heart disease, mainly calcification and regurgitation of the aortic and mitral valves, may occur, and in severe and progressive cases valve replacement may be necessary. Coronary artery disease may be accelerated in alkaptonuria.
A distinctive characteristic of alkaptonuria is that ear wax exposed to air turns red or black (depending on diet) after several hours because of the accumulation of homogentisic acid

144
Q

what treatment is being studied for alkaptonuria?

A

Treatment with nitisinone, which suppresses homogentisic acid production, is being studied

145
Q

what are the risk factors for BPH?

A

Risk factors
• Age: around 50% of 50-year-old men will have evidence of BPH and 30% will have symptoms.
Around 80% of 80-year-old men have evidence of BPH
• Ethnicity: Black > White > Asian

146
Q

How does BPH normally present?

-what are the complications?

A

BPH typically presents with lower urinary tract symptoms (LUTS), which may be categorized into:
• Voiding symptoms (obstructive): weak or intermittent urinary flow, straining, hesitancy,
terminal dribbling and incomplete emptying
• Storage symptoms (irritative) urgency, frequency, urgency incontinence and nocturia
• Post-micturition: dribbling
• Complications: urinary tract infection, retention, obstructive uropathy

147
Q

what are the 3 management options for BPH?

A

Management options
• W atchful waiting
• Medication: α-1 antagonists, 5 α-reductase inhibitors. The use of combination therapy was
supported by the medical therapy of prostatic symptoms (MTOPS) trial
• Surgery: transurethral resection of prostate (TURP)

148
Q

what is the first line medicine for BPH?

  • how does this work?
  • what are the adverse effects?
A

α-1 antagonists e.g. tamsulosin, alfuzosin
• ↓ smooth muscle tone (prostate and bladder)
• Considered first-line, improve symptoms in around 70% of men
• Adverse effects: dizziness, postural hypotension, dry mouth, depression

149
Q

what is the second line medicine for BPH?

  • how does this work?
  • what are the disadvantages of using this?
  • what are the adverse effects?
A

5 α-reductase inhibitors e.g. finasteride
• Block the conversion of testosterone to dihydrotestosterone (DHT), which induces BPH
• Unlike α-1 antagonists causes a reduction in prostate volume and hence may slow disease
progression. This however takes time and symptoms may not improve for 6 months. They may
also ↓ PSA concentrations by up to 50%
• Adverse effects: erectile dysfunction, ↓ libido, ejaculation problems, gynecomastia

150
Q

what are the risk factors for prostate ca?

A 
Risk Factors:
• Age
• ↑ fat diet
• Family Hx
• BPH is not a risk factor
151
Q

what is the management for ‘localised’ prostate Ca = T1/2?

A

Localized disease = T1/2
T1 - clinically unapparent disease:
• If life expectancy < 10 years then watchful waiting
• If life expectancy > 10 years then offer:
o Radical prostatectomy o Radical radiotherapy

T2 - palpable disease confined to prostate
• Radical prostatectomy
• Radical radiotherapy (often if older patient)

152
Q

what is the treatment for ‘locally advanced’ prostate ca? T3/4

A 
Locally advanced disease (T3/4)
• T3 = beyond prostatic capsule 
• T4 = involves bladder neck or rectum
• Most men will have occult mets
Radiotherapy
153
Q

what is the treatment for disseminated prostate Ca?

A

Disseminated disease - hormonal therapy

• Synthetic GnRH agonist
o E.g. Goserelin (zoladex) is a synthetic GnRH agonist which provides negative feedback
to the anterior pituitary.
o Cover initially with anti-androgen to prevent rise in testosterone

• Anti-androgen:
o Cyproterone acetate prevents DHT binding from intracytoplasmic protein complexes
• Orchidectomy

154
Q

Bladder Ca:

  • what are most cancers?
  • is this more common in men or women?
  • what is the most classic presentation?
A

Bladder cancer: is a common urological cancer with most cases being transitional cell carcinomas. It has a ♂:♀=3:1 with women generally having a worse prognosis than men. The most classical presentation is with total, gross, painless hematuria.

155
Q

what are non-genetic and non-drug assoc. with bladder ca?

A
  • Smoking
  • Occupational: aniline dyes used in printing and textile industry, rubber manufacture
  • Aromatic amines
  • Prior radiation treatment to the pelvis
  • Exposure to a urinary metabolite of cyclophosphamide (acrolein).
  • Schistosomiasis (S. hematobium infection)
156
Q

what genetic mutations are assoc. with bladder ca?

A

• Mutations on 17p13.1, the gene coding for p53, mutations of which are associated with high-
grade bladder cancer
• Mutation on 9p15 and 9p16, another tumor suppressor gene associated with low grade and
superficial tumors.

157
Q

what drug is assoc. with bladder ca?

A

• Drugs: cyclophosphamide

158
Q

is there a correlation between bladder cancer and coffee consumption, artificial sweetener intake or aspirin ingestion.

A

no

159
Q

what is thin basement membrane disease?

  • what are the clinical features?
  • what is the management?
A

An inherited disorder of type IV collagen that causes thinning of the basement membrane. It may affect up to 5% of the population and about 30% patients report a family history of haematuria. Diagnosis is usually based on the history of persistent haematuria, normal kidney function and family history of haematuria without kidney failure. It is generally a benign disorder and biopsy is rarely indicated.

160
Q

what is Calciphylaxis:

  • what causes it?
  • what is the manifestation?
A

complication of end-stage renal failure. The underlying mechanism is not clear, however it results in deposition of calcium within arterioles causing microvascular occlusion and necrosis of the supplied tissue. It most commonly affects the skin and presents with painful necrotic skin lesions.

161
Q

what are the risk factors for calciphylaxis?

A

The risk of developing calciphylaxis is linked with hypercalcaemia, hyperphophataemia and hyperparathyroidism. Warfarin is widely reported as causing/exacerbating calciphylaxis in high risk patients, however the underlying mechanism is not known.

162
Q

what is the treatment of calciphylaxis?

A

Treatment of calciphylaxis focuses on reducing calcium and phosphate levels, controlling hyperparathyroidism and avoiding contributing drugs such as warfarin and calcium containing compounds.

163
Q

acute interstitial nephritis:

-what is this most commonly caused by?

A

Acute interstitial nephritis (AIN) typically arises following drug therapy in the majority of cases (~75%), with infections and systemic vasculitides forming the rest.
drugs: the most common cause, particularly antibiotics
penicillin
rifampicin
NSAIDs
allopurinol
furosemide
systemic disease: SLE, sarcoidosis, and Sjögren’s syndrome
infection: Hanta virus , staphylococci

164
Q

what is the diagnosis of acute interstitial nephropathy?

- what other investigation findings exist?

A

Definitive diagnosis is done by renal biopsy, which is typically reserved for when the diagnosis is unclear or if another aetiology is suspected to occur concurrently/in equal likelihood.

Investigations
sterile pyuria
white cell casts

165
Q

what are the features of acute interstitial nephritis?

A 
Features
    fever, rash, arthralgia
    eosinophilia
    mild renal impairment
    hypertension
166
Q

what is the pathophysiology of acute interstitial nephritis?

A

Pathophysiology

histology: marked interstitial oedema and interstitial infiltrate in the connective tissue between renal tubules

167
Q

what is amyloidosis and what are the components of amyloid?

A

Overview

amyloidosis is a term which describes the extracellular deposition of an insoluble fibrillar protein termed amyloid
amyloid is derived from many different precursor proteins
in addition to the fibrillar component, amyloid also contains a non-fibrillary protein called amyloid-P component, derived from the acute phase protein serum amyloid P
other non-fibrillary components include apolipoprotein E and heparan sulphate proteoglycans
the accumulation of amyloid fibrils leads to tissue/organ dysfunction
168
Q

how is amyloidosis classified?

A

Classification

systemic or localized
further characterised by precursor protein (e.g. AL in myeloma - A for Amyloid, L for immunoglobulin Light chain fragments)
169
Q

what is the diagnosis of amyloidosis?

A

Diagnosis

Congo red staining: apple-green birefringence
serum amyloid precursor (SAP) scan
biopsy of rectal tissue
170
Q

AL amyloidosis:

  • common?
  • what does the L stand for?
  • what is this due to?
  • what are the clinical features?
A
  • the most common form of amyloidosis
  • L for immunoglobulin Light chain fragment
  • due to myeloma, Waldenstrom’s, MGUS
  • features include: nephrotic syndrome, cardiac and neurological involvement, macroglossia, periorbital eccymoses
171
Q

AA amyloid:

  • what does A stand for?
  • when is this seen?
  • what are the features?
A
  • A for precursor serum amyloid A protein, an acute phase reactant
  • seen in chronic infection/inflammation e.g. TB, bronchiectasis, rheumatoid arthritis
  • features: renal involvement most common feature
172
Q

Beta-2 microglobulin amyloidosis

  • what is beta-2 microglobulin?
  • what is this assoc with?
A

Beta-2 microglobulin amyloidosis

  • precursor protein is beta-2 microglobulin, part of the major histocompatibility complex
  • associated with patients on renal dialysis
173
Q

what is the diagnosis of Testicular choriocarcinomas?

A

Diagnosis:
• Primary tumour can be very small and go undetected on testicular examination.
• Marked ↑ in β-HCG in the presence of a normal AFP and CEA.
• Scrotal ultrasound is used to support the diagnosis
• CTs are of significant value for staging.

174
Q

what is the management of testicular choriocarcinomas?

A

Management:
• Choriocarcinoma is extremely sensitive to cisplatin based chemotherapy, with cure rates of up to 80% being achievable, even in advanced disease.

MRCP part 1 (17 decks)

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