Nephrology Flashcards
How may renal disease present?
- LUTS
- Loin pain
- Abdominal pain
- Haematuria
- Nephrotic syndrome
- CKD signs
- Uraemic frost
- Cutaneous manifestations (in Renal Phakomatoses)
A 57 y/o F patient presenting with abdominal pain in a loin-to-groin distribution. Pain comes and goes, nothing makes it better, 8/10. Urinalysis shows blood.
Likely diagnosis?
Gold-standard investigation?
Other investigations?
Causes (5) of this condition.
Treatment?
Nephrolithiasis
CT-KUB
Other: Urinalysis; FBC; U+E; Pregnancy test
Hypercalcaemia; Hyperoxaluria; Hypervitaminosis D; Infection; Indinavir; Inadequate drainage; Diet (vitamin A deficiency); Dehydration; Drugs (loop diuretics); Endocrine (cysteinuria)
Depends on size of stone (10mm) for ureteric stones; (5mm) for renal stones
Ureteric stones <10mm
- ESWL
+
- Tamsulosin
Ureteric stones >10mm
- PCNL
If a renal stone was taken for biopsy, what is its most likely composition?
Calcium oxalate
What shape is a calcium oxalate stone?
Biconcave/ bipyramidal envelope
What shape is a uric acid stone?
Needle-shaped/ rhomboids
What shape is a struvite stone?
Coffin-lid/ staghorn
What shape is a calcium-phosphate stone?
Wedge-shaped prisms
What shape is a cystine stone?
Hexagon-shaped needle
Which stones are radiolucent?
Indinavir
Cysteine
Uric Acid
Which drugs may increase the risk of kidney stones?
Diuretics
Indinavir
Glucocorticoids
Define an AKI.
Sudden-onset reduction in renal function measured by SCr or Urine output occurring hours-days
Outline the criteria for a Stage 1 AKI.
SCr increase of 1.5-1.9x ; increase by 26umol/L
Urine output of <0.5mL/kg/hour for 6-12 hours
Outline Stage 2 AKI
SCr increase of 2-2.9x
Urine output reduction of <0.5mL/kg/hr for 12h
What is stage 3 AKI?
3x or >354umol/L or RRT
<0.3mL/kg/h (24h)
How may an AKI be categorised by cause(s)?
Pre-renal
Renal
Post-renal
How may an AKI be categorised by cause(s)?
Pre-renal
Renal
Post-renal
How may an AKI be categorised by cause(s)?
Pre-renal
Renal
Post-renal
How would you manage an AKI?
Treat the cause
Outline the general management of an AKI?
Consider the cause
Pre-renal AKI:
- Fluid resuscitation: 500mL STAT (max 2L)
Renal:
- Biopsy and referral
Post-renal:
- Decompression
Other sequelae:
Acidosis:
- Sodium bicarbonate
Hyperkalaemia: (10:10:10)
- Calcium gluconate (10%) 10mL over 10 minutes
- IV Insulin 10U in 25g glucose (50% in 50mL)
- Sabutamol 10mg
Fluid overload:
- Fluid restrict
- Diuretics
State 3 Nephrotoxic drugs.
NSAIDs Beta lactams ACEi/ARBs/ß-blockers Metformin Opiates
Describe CKD.
Abnormal structure or function ≥ 3/12 characterised by reduced eGFR
What measurable components are used in the criteria for CKD?
eGFR
Albumin excretion
An eGFR of 120mL/min/1.73 is stage…
G1
An eGFR of 88mL/min/1.73m is stage…
Stage 2
An eGFR of 68mL/min/1.73m is stage…
Stage 2
An eGFR of 78mL/min/1.73m is stage…
Stage 2
An eGFR of 58mL/min/1.73m is stage…
Stage 3a
An eGFR of 48mL/min/1.73m is stage…
Stage 3
An eGFR of 38mL/min/1.73m is stage…
Stage 3b
An eGFR of 42mL/min/1.73m is stage…
G3b
An eGFR of 18mL/min/1.73m is stage…
G4
An eGFR of 28mL/min/1.73m is stage…
Stage 4
An eGFR of 8mL/min/1.73m is stage…
Stage 5
An eGFR of 12mL/min/1.73m is stage…
Stage 5
What are the 3 categories for CKD regarding Albumin excretion?
What are the 3 categories and their limits for CKD regarding ACR?
A1 = <30; <3
A2 = 30-300; 3-30
A3 = >300; >30
(Albumin; ACR)
What investigations may you order in a patient with a declining eGFR over time?
- Urinalysis: protein/blood/ leukocytes
- ACR
- Electrophoresis
- MSC: white casts/red casts/granular casts
- FBC: derangements - ?Hb
- U+Es: ∆s? - reduced Ca2+; elevated PO43- ; reduced EGFR; increased ACR
- Hormones: increased PTH (renal osteodystrophy)
- Abs
- Bone profile
- USS: size; corticomedullary differentiation
- > Offer in visible haematuria or persistent microscopic haematuria
- Renal biopsy
How would you treat CKD?
- ACEi: Ramipril
or - ARB + Statin: Candesartan + Simvastatin
Consider:
- Diuretics
- Vitamin D
- Bisphosphonates
- Calcium acetate
- Quinine
- Ferrous fumarate
At what level of Pi do you consider medical management?
Pi > 1.5mmol/L
Calcium acetate
How would you treat cramps associated with CKD?
Quinine
When do you refer to nephrology in CKD?
- eGFR drop by 25% or drop by 15% over 12/12
- G4+G5 (≈ eGFR <30)
- Proteinuria = A3 (ACR >30) with haematuria
- Malignant hypertension (≥4 antihypertensive)
- Rare/genetic CKD cause
Compare and contrast the two types of RRT.
HD = blood via dialysis machine with dialysate on either side allowing diffusion
- 4-5 times a week
- AV fistula
- Anticoagulation required
- Risk of hypotension
PD = Tenckhoff catheter placed into peritoneal cavity in SC tunnel with dialysate connected to tunnel to push fluid into cavity
- 3-5 times a day
- Risk of infection
What opportunistic pathogen may enter via a Tenckhoff catheter?
S epidermidis
S aureus
State 3 complications of RRT
CVD: endothelial dysfunction; vascular stiffness
Renal bone disease
Infection (opportunistic; uraemia changes T cell and granulocyte function)
Amyloid accumulation
What are the donor options for a renal transplant?
- Living donor
- Donor after cardiac death (DCD)
- Donor after brain death (DBD)
What drugs may be used in a kidney transplant?
Monoclonal antibodies: Daclizumab; Alemtizumab
Calcineurin inhibitors: Tacrolimus; Ciclosporin
Antimetabolites: Mycophenolate; Azathioprine
Glucocorticoids
Which drugs are given as inducers at the time of renal transplantation?
Monoclonal antibodies:
Daclizumab (CD25 T cell blocker)
Alemtuzumab (T and B cell)
What drug is given as first line for acute renal transplant rejection?
Prednisolone
Describe Glomerulonephritis.
Diseases caused by pathology to the filtration unit of the kidney causing CKD which presents with proteinuria and/or haematuria, diagnosed by renal biopsy or urinalysis and can progress to kidney failure.
Outline the broad structure of a glomerulus.
- Afferent + Efferent arteriole
- Capillary plexus
- Fenestrated endothelium lines glomerular capillaries
- Basement membrane (GBM) supports endothelium
- Podocytes (foot processes) separated by filtration pores
What is the gold-standard investigation to diagnose a glomerulonephritis?
- Renal biopsy
Which two syndromes may Glomerulonephritis be divided into?
Give the main features of each.
Nephrotic syndrome: hypoalbuminaemia + proteinuria + peripheral oedema
Nephritic syndrome: haematuria + oedema + hypertension
What 3 features are present in a nephrotic syndrome?
Hypoalbuminaemia (<30g/L)
Proteinuria (>3g/day)
Oedema
Give 3 examples of primary renal nephrotic syndrome and 3 examples of secondary renal nephrotic syndrome.
Primary:
- Minimal Change Disease
- Focal Segmental Glomerulosclerosis
- Membranoproliferative Glomerulonephritis
Secondary:
- Diabetes Mellitus
- SLE
- Myeloma
- Amyloid
- Pre-eclampsia
How would you manage a nephrotic syndrome?
- Tx cause \+ - Renoprotection: reduce damage \+ - Reduce oedema: Diuretics -> Aim for 0.5-1kg weight loss/day \+ - Tx complications: infection; VTE; hyperlipidaemia; electrolyte disturbances; metabolic changes
How much weight loss per day do you aim for when treating nephrotic syndrome with diuretics?
0.5-1kg/day
Which patient group is minimal change disease most commonly seen in?
Young males (90%)
Why is minimal change disease named this?
On microscopy, nothing is observed and electron microscopy shows fusion of podocytes.
An 4 y/o M presents with ankle oedema which has occurred recently. He is systemically well and there is nothing he sees his doctor for usually. FH is unremarkable.
Urinalysis shows protein ++, no blood and is frothy.
What investigations would you run?
Differential?
Treatment?
Urinalysis: Protein
MS+C: hyaline casts
eGFR: reduced
Renal biopsy: no change
DDx: Minimal Change Disease
Prednisolone 1mg/kg for 16 weeks
What other features may occur in patients with nephrotic syndrome?
Deranged lipids
Hypertension
Hypercoagulability
Which patient group is Focal Segmental Glomerulosclerosis most likely to occur in?
Black Patients
What is the definition of Focal Segmental Glomerulosclerosis?
Disease which may be primary or secondary which results in reduction of kidney mass, featuring scarring at specific points in the glomeruli covering <50% of glomerulus resulting in nephrotic syndrome.
How do you treat Focal Segmental Glomerulosclerosis?
- Renoprotection: ARB/ACEi
± Primary (idiopathic) - Corticosteroids: 1mg/kg
The treatment of Wilson’s disease may cause which Glomerulonephritis?
Which drug treats this condition?
Membranous Nephropathy
Penicillamine
What is membranous nephropathy?
Commonest cause of nephrotic syndrome in adults, usually idiopathic but may be secondary, resulting in IgG and C3 deposition along GBM resulting in resorption of deposits and structural change.
A patient is presenting with nephrotic syndrome. Upon biopsy, diffusely thickened GBM is identified, due to IgG deposits. Additionally, IgG is seen in the Ab screen.
Differential?
Treatment?
Membranous Nephropathy
- Renoprotection: ACEi/ARB and Anti-hypertensives
Refractory to Tx for 6/12 or increased SCr by 30%
+ Ponticelli regimen (Pred + Cyclophosphamide)
What is Membranoproliferative Glomerulonephritis?
Nephrotic syndrome caused by deposition of IgG or C3 with increased cell numbers in the membrane of the glomerulus
What is the difference between Membranous Nephropathy and Membranoproliferative Glomerulonephritis?
In membranoproliferative disease, the mesangium and the GBM is affected
A patient presents with frothy urine showing protein and blood. On renal biopsy, there is C3 present and proliferation of the basement membrane and mesangium.
Differential?
Membranoprolierative Glomerulonephritis
- Renoprotection: ACEi/ARB
Outline the key clinical features of nephritic syndrome.
Haematuria + Hypertension + Oedema
A 32 year old female presents with ankle oedema. She is usually well but has had a throat infection for the last 2 days. Urinalysis shows blood and protein.
A renal biopsy shows IgA deposited within the mesangium.
Differential?
Treatment?
IgA Nephropathy
- Renoprotection: ACEi/ARB
± Persistent proteinuria (>1g following 3/12) - Corticosteroids: Prednisolone at 1mg/kg
A 15 year old presents with ankle oedema and a purpuric rash on the buttocks. Additionally, he has had some tummy pain.
Urinalysis shows blood ++ and protein ++. He his hypertensive. Furthermore, a renal biopsy shows IgA and C3 positive.
What is your diagnosis?
What is your treatment?
HSP
- Renoprotection: ACEi/ARB
± Persistent proteinuria (>1g following 3/12) - Corticosteroids: Prednisolone at 1mg/kg
A patient presents with periorbital and ankle oedema, oliguria and darker urine. They are usually well but had a throat infection 2 weeks ago.
Their ASO is raised. Furthermore, urinalysis shows protein ++, blood ++.
What is your differential?
What other Antibody may be present?
What is your management?
Post-streptococcal Glomerulonephritis
Anti-DNAse B
- Supportive: analgesia; antipyretics
+ - ABX: Penicillin
Which type of collagen are antibodies produced against in Anti-GBM Disease?
Type 4 collagen
A patient presents with haematuria, puffy ankles and productive cough in which blood is present.
Renal biopsy shows crescent formation with anti-GBM antibodies.
Differential?
Treatment?
Anti-GBM disease
- Corticosteroids: Prednisolone \+ - Immunosuppressants: Cyclophosphamide \+ - Plasma exchange
What is rapidly progressive glomerulonephritis?
Any aggressive GN progressing to renal failure over days/weeks
What pathogen is the most common cause of Pyonephrosis?
Give 3 other potential pathogens.
E. coli
Proteus Klebsiella S. saprophyticus S. aureus Candida
A patient presents with nausea, high temperatures and fishy urine following a few hours of severe pain in the side of her tummy.
What investigations would you order?
Differentials?
Treatment?
- Urinalysis: Haematuria/Proteinuria/Leukocytes/WBCs
- Renal function: Hypercreatinemia/Reduced eGFR; Hyponatremia/Hyperkalemia/Acidosis (low bicarbonate)
- Urine culture: Positive or sterile
- FBC: Anaemia/Leukocytosis
- US-renal: small, irregular, scarred kidneys; echogenic parenchyma (pus); hydronephrosis; renal stones; peri-renal fluid collections
- XR-KUB: Renal calculi/kidney size
Pyelonephritis
Pyonephrosis
• ABX: Ciprofloxacin (500mg PO BDS 7-14/7)
If stones:
- PCNL
If complicated disease:
- Admit + Ceftriaxone
How may you categories UTIs?
Uncomplicated: UTI in healthy individual
Complicated: drug-resistant or structural impairment
Acute: infection
Recurrent: 2 episodes within 6 mo
State 3 RFs for a UTI
PMHx UTI Age > 50 F Instrumentation of renal tract Renal tract obstruction / Structural differences
Which is the most common cause of a UTI?
E. coli
A 27 year old male presents with painful urination, increased trips to the toilet to pee and pain in his lower tummy.
He has no discharge or pruritus. He has recently had sexual intercourse with his partner of ten years and they use barrier contraception.
What investigations would you run?
Treatment?
Urinalysis: Nitrite, Leukocytes
FPU: Leukocytes
Culture
Could order a CT-KUB
Nitrofurantoin; Ciprofloxacin
A 28 year old male presents with painful urination, green discharge and pruritus at the end of his penis.
What investigations would you order?
Differentials?
Management?
FPU + NAAT: gram negative, diplococci
Urinalysis: Leukocytes
Urethritis secondary to Gonorrhoea
Ceftriaxone (1g IM) and Azithromycin (1g PO)
AND
Test of cure in 5 weeks
A 28 year old male presents with painful urination, discharge and pruritus at the end of his penis. He also has some eye pain and joint pain.
What investigations would you order?
Differentials?
Management?
Urinalysis: Leukocytes
FPU + Microscopy: rod-shaped, gram negative bacterium
Urethritis secondary to Chlamydia infection (Reiter’s Syndrome)
Ceftriaxone (1g) + Azithromycin (1g PO)
Which organism is the commonest cause of Prostatitis?
E. coli
Describe Urinary Incontinence
Involuntary expulsion of urine occurring due to strenuous physical activity (stress incontinence) or increased urge (urgency incontinence) or both (mixed incontinence) characterised by polyuria, nocturia, lower abdominal (suprapubic) distension and enuresis (if no physical cause found).
How may Urinary Incontinence be classified?
- Stress: Urination on physical activity (e.g. cough, strain ): IA pressure raised > Urethral P
- Urgency: Increased desire: Overflow UI = male outflow obstruction thus oliguria + bladder distension
- Mixed: ∑ (Stress + Urgency)
The external urethral sphincter is controlled by which nerves?
Pudendal N. (S2-4)
Outline the two phases of the micturition cycle.
Filling phase in which urine enters, stretch receptors are stimulated and bladder relaxes with sphincter contracting (L1-L3 hypogastric plexus)
Voiding phase in which the bladder is 75% full thus the detrusor contracts and sphincters relax (S2-S4) with intravesical P > urethral P
State 5 RFs for urinary incontinence.
Stroke Obesity Pregnancy Ageing Parkinson's Dementia Multiple Sclerosis Radiotherapy Iatrogenic Faecal incontinence
What is the difference between urgency and voiding symptoms?
Urgency is suggestive of storage incontinence, whereby the bladder is weaker or overactive thus increased desire to micturate
Voiding is suggestive of stress incontinence, whereby there is improper expulsion of urine
State the urgency and voiding symptoms.
Frequency
Urgency
Nocturia
Weak stream
Intermittency
Straining
Emptying incomplete
What investigations may you order in a case of suspected urinary incontinence?
- Bladder diary
- Empty supine stress test (Valsalva manoeuver in dorsal lithotomy position after voiding): Positive (urine leakage)
- Cough stress test (300mL filling + Valsalva manoeuvre in dorsal lithotomy): Urine leakage if positive
- Post-void residual measurement (US following voiding): Elevated if ≥100mL OR ≥ 50% void volume
- Urinalysis: May show leukocytosis; RBC casts; Infection; Nitrites
- US-KUB
- Cystourethroscopy (bladder scope): Fistula/Foreign body/Tumour/Interstitial cystitis/Urethritis
How do you manage a stress UI?
1st line is Pelvic floor training
• Conservative: Pelvic floor training; Weight loss; Smoking cessation; Modify fluid intake; Penile sheath (M)
±
• SNRIs: Duloxetine
± (Failed conservative + medical thus 3rd line)
• Surgery: Suburethral sling/ Urethral bulking agent (Si microparticles; Coaptite)
OR (Urethral hypermobility or displacement)
• Surgery: Burch colposuspension/ Artificial sphincter
How do you manage an urgency UI?
• Conservative: Bladder training/Pelvic floor training/ Modify fluid intake
±
• Pharmacotherapy: Oxybutynin (anticholinergic)/ Tolterodine (anticholinergic)/ Mirabegron (ß3 agonist)/ Topical Oestrogen/ Botulinum toxin (Ives.)
± (Failed conservative + medical)
• Surgery: Sacral nerve stimulation (Neuromodulation)/Clam ileocystoplasty/Urinary diversion
What class of drug is Duloxetine?
SNRI
What class of drug is Mirabegron?
ß3 agonist
What class of drug is Oxybutynin?
Anticholinergic
What class of drug is Tolterodine?
Anticholinergic
A patient presents with painful urination, increased need to urinate and a fever. He has not passed urine like usual for the last day. He feels like he needs to go but cannot.
O/E he has a distended bladder. He has a PMHx of retroperitoneal fibrosis.
What investigations will you order?
What are your differentials?
How will you manage this?
Urinalysis: positive nitrites and blood FBC: Normal U+Es: Normal US-Renal: Hydronephrosis CT-Pyelogram: Pyonephrosis and fibrosis of the ureters causing extraluminal obstruction.
Urinary Obstruction secondary to Pyonephrosis tertiary to Retroperitoneal Fibrosis
Catheterise
Analgesia
Antibiotics
Stenting
A 62 year old male presents with increased need to go to the bathroom to pass urine, passing urine 2-3 times per night. He says when he goes, he has to wait to get going and then it stops then starts again. At the end a few drops come out and he mus wait.
What symptoms are he describing?
What investigations may you order?
O/E he has a smooth, nodular enlargement bilaterally of the prostate.
What are your differentials?
How may you manage this?
Frequency
Urgency
Nocturia
Waiting
Intermittency
Emptying incomplete (dribbling)
- Urinalysis: Normal (uncomplicated); Pyuria (Complicated); Haematuria (Ca)
- PSA: Elevated
- International Prostate Symptom Score (IPSS): Mild (0-7); Moderate (8-19); Severe (20-35)
- US: Hydronephrosis/Mass/Urolithiasis/Post-void residual
- CT-Abdo/Pelvis: Mass/Hydronephrosis/Urolithiasis
Benign Prostatic Hyperplasia
Want to rule out Prostate Adenocarcinoma
Medical: Tamsulosin or Finasteride
Volume >30g
Surgical: TURP
Volume >80g
Surgical: Open prostatectomy
How does Tamsulosin mediate its effects in BPH management?
alpha 1 antagonist thus smooth muscle relaxes in prostate and ureters with reduced resistance to urine flow
How does Tamsulosin mediate its effects in BPH management?
alpha 1 antagonist thus smooth muscle relaxes in prostate and ureters with reduced resistance to urine flow
What are the side effects of Tamsulosin?
Dizziness
Sexual dysfunction
What is the MOA of Finasteride in BPH?
5a reductase inhibitor therefore reduces production of testosterone which reduces the growth of the prostate
What is the main side effect of Finasteride?
Sexual dysfunction
Breast abnormalities
Skin reactions
Which grading system can be used for Prostate Cancer?
Gleason Score
TNM
How is a Gleason Score calculated?
Take the two biopsied areas with the most dysplasia and add the score up using the Gleason Pattern Scale (1-5) which gives a score from 2-10.
Low = <6
Intermediate = 7
High = 8
What DRE finding(s) may increase your suspicion of a Prostate Cancer?
Assymetrical, enlargement, rigid, nodular prostate
What is the PSA threshold which warrants further investigation?
> 4 ug/L
with LUTS and 50+ or FHx
Which cancers commonly metastasise to bone?
Prostate
Breast
Kidney
Lung
Thyroid
How do you manage prostate cancer?
Supportive: Active surveillance (6 mo. bloods; 12 mo. DRE); Smoking cessation; Diet
Medical: Brachytherapy; Radiotherapy; Bicalutamide/Flutamide + Gorserelin
Surgery: Radical prostatectomy
A 2 day old presents with frothy urine and clubbed feet. O/E he is breathing rapidly with shallow breaths, you note craniofacial abnormalities.
He was born by LUCS in a planned delivery. The mother reports that the health visitor said she had less amount of amniotic fluid than usual.
US-Kidney shows no kidneys present.
What is your differential?
What are the features of this disease?
How would you manage this?
Bilateral renal agenesis (Potters Syndrome)
Features: Pulmonary Hypoplasia Oligohydramnios Twisted skin Twisted face Extremity Deformity Renal agenesis
- RRT: Dialysis/Transplantation
- IV Fluids and electrolytes
- Diuretics: Thiazide diuretics (bendroflumethiazide/Indapamide); ARAs (Spironolactone/Eplerenone)
What is Polycystic Kidney Disease?
congenital disease which results in cysts developing in the kidneys, compromising renal function and predisposing to chronic renal disease
What are the associated extra-renal findings with PCKD?
Cerebral aneurysms
Pancreatic/Prostatic, Ovarian, Splenic, Hepatic (POSH) Cysts
Colonic diverticula
Cardiac valve disease (mitral regurgitation)
Aortic root dilatation
Which type of PCKD is more common?
Autosomal dominant (85%)
Where is PKD-1 found?
Chromosome 16
Where is the PKD-2 gene found?
Chromosome 4
Which form of PCKD is more dangerous/severe?
Autosomal recessive
What investigation would you order and what would it show in PCKD?
US - enlarged bilaterally with echoic and anechoic masses (liquid-filled cysts)
U+Es
Genetic testing
IV Pyelogram
Liver biopsy
How would you manage PCKD?
- Supportive (delay progression): Monitoring/Avoid nephrotoxic substances/Treat arterial hypertension/Treat UTIs
- Vasopressin receptor analogue: Tolvaptan
- Treat liver failure
- Genetic counselling
- RRT: Dialysis/Kidney transplantation
What is Wilm’s Tumour?
WT1 TS gene ∆ in children with oncology referral (surgery, radio + chemo)
How do you treat a Wilm’s tumour?
- Surgery: Radical nephrectomy
* Post-operative chemotherapy: Dactinomycin + Vincristine
What are the renal phakomatoses?
broad group of neurocutaneous syndromes
A 34 year old male presents to the GP with recent personality change. He says that his wife has gradually reported a more fluctuant mood in himself. Furthermore, he said he has had some recent headaches. He recently had a cough which has been present for 6 months and he says he is regularly SOB.
O.E you notice some areas of hypopigmentationw which are flat. Furthermore, on his lower back there are some skin lesions with an orange-peel texture. His chest is clear; S1+S2 are pure but he has an irregular heart rate.
PMHx - pneumothorax
What tests would you order?
What is your differential diagnosis?
What are the clinical features (both observed) and seen in this condition?
How would you manage this condition? (Give the 3 main ones, and 2 further examples)
- FBC
- U+E
- PFTs
- ECG
- Echocardiogram
- EEG
- MRI-Brain
- CT-CAP
- Genetic testing: ∆TSC1/2
- Colonoscopy
- Renal biopsy
Tuberous Sclerosis
Ashleaf Spots
Shagreen’s patches
Heart rhabdomyomas
LAMs
Epilepsy
Angiomyolipoma
Facial angiofibroma
- mTOR1 inhibitor: Evrolimus
± Seizures
- Anticonvulsant: Lamotragine
Note: Ketogenic diet may reveal metabolic disorders via diet, levels of organic acids and carnitine w/ ECG
± Subependymal giant cell astrocytoma
- Active surveillance: Periodic neuroimaging
or
- Surgical resection
± Angiofibroma/collagen plaque (Shagreen patch)
- Laser therapy (<2mm)
or
- Dermabrasion (>2mm)
± HTN
- Antihypertensives: Amlodipine
Note: Do not use ACEi if patients Tx with mTOR inhibitor
± Angiomyolipomata
- Active surveillance
If >3-6cm
- Embolisation or Nephrectomy
± Lymphangioleiomyomatosis (LAM) - Active surveillance \+ - mTORi: Evrolimus ± - Oxygen therapy
± Renal Cell Carcinoma
- Total Nephrectomy
± Intracranial aneurysm
- Surgery: Intra-arterial coiling/ Craniotomy/ Clipping
What type of diet may reveal metabolic disorders?
Ketogenic diet
What is Von-Hippel Lindau Syndrome?
Autosomal dominant inheritance disease due to ∆VHL causing ∆VHLp resulting in tumour and cyst development affecting multiple systems
What are the clinical features of Von-Hippel Lindau Syndrome?
Haemangiomas Increased risk of RCC Phaeochromocytoma Pancreatic lesions Eye Lesions
What would you expect the plasma catecholamines to come back as in VHL Syndrome?
Elevated due to Phaeochromocytoma
How would you manage a patient with known Von-Hippel Lindau Disease?
Supportive: Annual review (surveillance)
Surgical: Nephrectomy; Resection of adrenal medulla; Resection of haemangioblastoma
Describe Alport Syndrome.
Inherited disease of glomerular basement membrane abnormalities – type IV collagen resulting in sensorineural hearing loss, lenticonus, retinal abnormalities and renal problems.
A 4 year old child is brought into GP by his mother due to noticing blood in his urine. The urine is described as frothy. In addition to this, she says she has to speak louder to him when communicating and that he does not listen.
O/E he is SOB and has a cough. His chest is clear and S1+S2 are pure. He has swollen ankles. A Rinne’s and Weber’s test shows sensorineural hearing loss bilaterally.
Urinalysis shows blood++ and protein++.
What condition are you suspicious of?
What investigations would you wish to run?
How would you manage this?
Alport Syndrome
- FBC: elliptocytosis; leykocytosis; anaemia
- Metabolic panel: may suggest renal impairment
- Urinalysis: haematuria/proteinuria
- Fasting lipid panel: ?dyslipidaemia
- Audiometry: High-tone sensorineural hearing loss
- Ophthalmoscopy: corneal/retinal abnormalities/ lenticonus/ maculopathy/ cataracts
- Renal ultrasound: Normal – exclude other renal tract pathology
- Renal biopsy: loss of staining for type IV collagen
- ECG: ? LV hypertrophy
- Genetic testing: COL4A5
- Supportive: Annual monitoring – FBC; U+Es; eGFR; lipids; uric acid; urinalysis
± Nephrotic Syndrome
- ACEi
+
ARB
Aim for < 130/80mmHg
± Chronic Renal Failure
- RRT
± Sensorineural deafness
- Audiologist referral
± Visual disturbance
- Ophthalmology referral
± Symptomatic leiomyomas
- Surgical excision
What is the target blood pressure for a patient with Alport Syndrome?
<130/80mmHg
Which gene is mutated in Alport Syndrome?
COL4A5
In Fabry Disease, which enzyme is deficient?
a-Galactosidase A
Deficiency of what results in accumulation of what substrate in Fabry Disease?
alpha Galactosidase A deficiency results in accumulation of Ceramide trihexoside
What are the clinical manifestations of Fabry Disease?
Foamy urine (Fabry nephropathy) Anhidrosis/Angiokeratoma Burning pain (dysaesthesia) Really dry CVD/ Corneal disease/ Cataracts
How do you manage a patient with Fabry Disease?
Tx symptoms
+
alpha Galactosidase A
What is the gold standard test for a patient with suspected Cystinuria?
- Urinary cyanide nitroprusside test: positive
Cyanide converts cystine to cysteine with nitroprusside binding to cause a purple hue which detects levels of cystine
How do you manage cystinuria?
- Supportive: IV fluids \+ - Alkalising agent: Potassium citrate; Acetazolamide \+ - Chelating agent: Penicillamine-D
Describe Cystinosis.
Inherited inborn error of metabolism of autosomal recessive nature that involves lysosomes improperly transporting cystine hence accumulation (lysosomal storage disease).
What is the diagnostic test for suspected Cystinosis?
- WBC Cystine test: Elevated
How do you manage Cystinosis?
- Supportive: IV Fluids; Electrolytes \+ - Cysteamine (binds to cystine to form cysteine which is transported) \+ - Renoprotection/RRT
What drug can be used to bind Cystine in Cystinosis?
Cysteamine
What is the most common form of Renal Cell Carcinoma?
Clear Cell (75%)
What syndrome describes hepatic dysfunction in the absence of metastasis with hepatic derangements seen in Renal Clear Cell Carcinoma?
Stauffer Syndrome
Describe Stauffer Syndrome.
paraneoplastic disorder associated with RCC resulting in hepatic dysfunction in the absence of metastasis with hepatic derangements seen
What is the 1st line imaging for a suspected Renal Cell Carcinoma?
US-Abdomen
Deranged LFTs in the presence of RCC with unremarkable US-Liver suggests…?
Stauffer Syndrome
How do you manage a Renal Cell Carcinoma?
Stage 1 or 2
- Surveillance
or
- Surgery
Stage 3
- Surgery: Radical nephrectomy
+
- Chemotherapy
Stage 4
- Chemotherapy
+
- Radiotherapy
What are the potential post-operative problems in a renal transplant?
ATN of graft
Vascular thrombosis
Urine leakage
UTI
What are the clinical features of a hyper acute kidney transplant rejection?
Rejection in minutes to hours
Type II hypersensitivity reaction
Widespread thrombosis of graft vessels
Remove graft
What are the clinical features of an acute kidney graft failure?
Rejection in <6 months due to mismatched HLA or CMV infection
Asymptomatic but detected by rising sCr and proteinuria
May reverse with steroids/immunosuppressants
What are the causes of chronic graft failure?
Failure >6 months
Ab and cell-mediated mechanisms resulting in fibrosis
Recurrence of original disease
What features make up the Wells Score for DVT?
Cancer
Immobility
DVT PMHx
Localised tenderness
Swelling of whole leg
Swelling >3cm
Paralysis
What other causes of raised D-dimer are there?
DIC Vasculitis Pneumonia Atrial Fibrillation Angina Vaso-occlusive Sickle Cell Crisis Phlebitis
How are maintenance fluids calculated in adults?
Fluid = 25-30ml/kg/day
Electrolytes = 1mmol/kg/day for Na, Cl, K
50-100g glucose for day
How are maintenance fluids calculated in children?
Use Holliday-Segar formula
First 10kg = 100mL/kg
Second 10kg = 50mL/kg
Every kg after = 20mL/kg
What is the pathophysiology relating nephrotic syndrome to hypercoagulability?
Antithrombin III leaks out go filtrate resulting in reduced inhibition of Factor Xa and Thrombin resulting in increased clot formation
Give 3 examples of a hypovolaemic hyponatraemia.
Diuretics Diarrhoea Vomiting Burns Anaphylaxis Haemorrhage Renal failure with high urine output
Give 3 examples of euvolaemic hyponatraemia.
SIADH Drugs (SSRIs; Anti-epileptics; Opioids) Adrenal insufficiency Reduced salt intake Fluid overloading TURP syndrome
Give 3 examples of hypervolaemic hyponatraemia.
CHF
Cirrhosis
Nephrotic syndrome
Renal failure with low urine output
Why is careful correction required in hyponatraemia?
Avoidance of Central Pontine Myelinosis
Give 3 causes of hypernatraemia.
Dehydration Salt intake - drugs or IV NaCl Diabetes insipidus Conn's Syndrome Osmotic diuresis
What might be the causes of black urine?
Haemolysis
Malignancy
Which drugs may cause green urine?
Amitriptyline
Propofol
which anti-TB drug may alter the urine colour?
Rifampicin - red/orange urine
what colour urine casts are observed in acute tubular necrosis?
Brown muddy casts
When might you observe hyaline casts in urine microscopy?
Diuretic use/Dehydration
What are the indications for acute dialysis?
Mnemonic: AEIOU
Acidaemia Electrolyte imbalance Intoxication Oedema Uraemia
What is the management for a Post-streptococcal Glomerulonephritis?
Supportive: Confirm Diagnosis (swab and ASO); Safety net;
Monitor eGFR
Outline the main differences between Goodpastures Syndrome vs Wegener’s Granulomatosis.
Both conditions result in kidney injury and haemoptysis.
However, in Goodpasture’s Syndrome the antibodies are mediated against the Glomerular basement membrane and IgG.
In Wegener’s the antibodies are cANCA mediated, with positive ANA, targeting multiple sites which give epistaxis, nasal haematoma, sinusitis and a facial rash.
What is the causative organism of Haemolytic Uraemic Syndrome?
E.Coli O157
S pneumonia
Rarer causes:
SLE
Cancer
HIV
Outline the main difference between raindrop and salt and pepper skull. Which conditions are these seen in?
Raindrop skull - varied sizes of calvarial damage due to Multiple Myeloma
Salt and pepper skull - multiple, uniform radiolucencies in the calvaria seen in Hyperparathyroidism
How would you treat hyperkalemia with ECG changes?
Calcium gluconate (stabilise the membrane): 10mL of 10% over 10 minutes via large vii
Insulin 10U over 1 hour + 25g Glucose (50% in 50mL)
Re-assess in 15-30 minutes
Can give Salbutamol 10mg-20mg
If [K+] remains >6.5mmol/L discuss with ITU and consider immediate dialysis
Can also start Calcium resonium
Give 5 causes of CKD.
Inherited: PCKD/Potters/Renal agenesis/Horseshoe kidney/Fabry’s/Alport syndrome
Vascular: RAS/DM/Hypertension
Autoimmune: SLE/Goodpasture’s/MCD/Wegener’s
Infiltrative: Amyloidosis/ TB/VHL
Neoplasia: RCC/Bladder cancer/PC/Wilm’s tumour
Drugs
Which medications are usually considered to be safe in an AKI?
ABCS…
Aspirin (cardioprotective dose)
Beta blockers
(anti)Coagulants: Warfarin
Statins
What is the maximum rate of replacement for potassium in the case of severe hypokalemia?
0.05mL/kg/hour via a central vein
What is the target blood pressure for a diabetic patient with known end-organ damage?
<130/80mmHg
