Clinical Flashcards
definition of chronic kidney failure?
reduced GFR and/or evidence of kidney damage
definition of chronic kidney failure?
reduced GFR and/or evidence of kidney damage
what creatinine a product of?
muscle breakdown
stage 1 CKD?
GFR>90ml/min with evidence of kidney disease
stage 2 CKD?
GFR 60-90ml/min, with evidence of kidney damage
what things count as evidence of kidney damage?
- proteinuria
- haematuria
- abnormal imaging
stage 3A CKD?
GFR- 45-60ml/min
stage 3B CKD?
GFR- 30-44ml/min
stage 4 CKD?
GFR- 15-30 ml/min
stage 5 CKD?
GFR
what association does proteinuria have on progression of CKD?
more proteinuria - faster progression
what are the common causes of CKD? (7)
- diabetes
- hypertension
- vascular disease
- chronic glomerulonephritis
- reflux nephropathy
- polycystic kidneys
- unknown
commonest cause of established renal failure?
diabetes
when do symptoms due to reduced GFR occur?
late. GFR
how can CKD cause anaemia?
erythropoiten is produced in the kidney and production declines in CKD
what does erythropoiten do?
stimulates bone marrow to produce red blood cells
if patient is still anaemic after IV iron, what can you give them?
regular erythropoiten (Epo) injections
how often are Epo injections given?
every week or fortnight
what is the target Hb when giving treatment for anaemia?
105-125 g/l
how can CKD lead to bone disease?
- vit D hydroxylated in kidney, reduced in CKD
- leads to reduced calcium absorption, leading to secondary hyperparathyroidism
what happens to phosphate levels in advanced CKD?
increased serum phosphate
biochemistry of bone disease in severe CKD?
high phosphate and high calcium
what affect dose high calcium and phosphate have on vessels?
vascular calcification
management of bone disease in CKD?
- alfacalcidol
- phosphate
- phosphate binders
what is alfacalcidol?
hydroxylated vit D - doesnt need activation by kidneys
what is a patients GFR when they are given patient education on dialysis?
about 20ml/min
how long after the procedure can a arteriovenous fistula be used?
needs 6 weeks to mature
when are patients referred to the vascular surgeons for arteriovenous fistula?
when GFR is about 15ml/min
when can patients be listed for cadaveric transplantation?
when they are within 6 months of requiring dialysis
functions of the kidneys? (8)
- excretion of nitrogenous waste
- fluid balance
- electrolyte balance
- acid-base balance
- vit D metabolism/phosphate excretion
- production of erythropoiten
- drug excretion
- barrier to loss of proteins
what can a build up of urea in the blood lead to?
pericarditis, encepalopathy, neuropathy, gastritis
what affect do NSAIDS have on the kidney?
can cause an allergic reaction within kidney and they also reduce GFR
what antibiotics should you ask about in a drug history for a renal history?
gentamicin, trimethoprim, penicillins
what investigation can lead to acute kidney injury?
radiology contrast
what GI drug can damage the kidneys?
PPI
what must diastolic BP be above to classify as accelerated hypertension?
120 mmHg
what can be seen in the eyes in accerlerated hypertension?
papilloedema
what is the usual distribution of Henoch-Schonlein Purpura?
often on extensor surfaces and on the buttocks
what mediates Henoch-Schonlein purpura ?
IgA
what is present in urine when it is a smoky brown colour?
myoglobin
how does myoglobin end up in the urine?
breakdown of muscle causing a release of myoglobin which is deposited in kidney
what does it suggest if there is isomorphic RBCs present in urine?
the blood is coming from lower down the renal tract
what does it suggest if there is dysmorphic red blood cells in urine?
that they are coming from upper renal tract
what is acute kidney injury defined as?
decline in GFR over hours/days/weeks with or without oliguria
definition of oliguria?
what 3 things defines nephrotic syndrome?
- proteinuria > 3g/day
- hypoalbuminaemia
- oedema
what is nephrotic syndrome often associated with?
hypercholesterolaemia
what is the renal function often like in nephrotic syndrome?
often normal
where do patients get oedema in nephrotic syndrome?
periorbital oedema
do patients with nephrotic syndrome get pulmonary odema?
no but can get pleural effusions
signs in nephritic syndrome?
- acute kidney injury
- oliguria
- oedema/fluid retention
- hypertension
- active urinary sediment
what creatinine a product of?
muscle breakdown
stage 1 CKD?
GFR>90ml/min with evidence of kidney disease
stage 2 CKD?
GFR 60-90ml/min, with evidence of kidney damage
what things count as evidence of kidney damage?
- proteinuria
- haematuria
- abnormal imaging
stage 3A CKD?
GFR- 45-60ml/min
stage 3B CKD?
GFR- 30-44ml/min
stage 4 CKD?
GFR- 15-30 ml/min
stage 5 CKD?
GFR
what association does proteinuria have on progression of CKD?
more proteinuria - faster progression
what are the common causes of CKD? (7)
- diabetes
- hypertension
- vascular disease
- chronic glomerulonephritis
- reflux nephropathy
- polycystic kidneys
- unknown
commonest cause of established renal failure?
diabetes
when do symptoms due to reduced GFR occur?
late. GFR
how can CKD cause anaemia?
erythropoiten is produced in the kidney and production declines in CKD
what does erythropoiten do?
stimulates bone marrow to produce red blood cells
if patient is still anaemic after IV iron, what can you give them?
regular erythropoiten (Epo) injections
how often are Epo injections given?
every week or fortnight
what is the target Hb when giving treatment for anaemia?
105-125 g/l
how can CKD lead to bone disease?
- vit D hydroxylated in kidney, reduced in CKD
- leads to reduced calcium absorption, leading to secondary hyperparathyroidism
what happens to phosphate levels in advanced CKD?
increased serum phosphate
biochemistry of bone disease in severe CKD?
high phosphate and high calcium
what affect dose high calcium and phosphate have on vessels?
vascular calcification
management of bone disease in CKD?
- alfacalcidol
- phosphate
- phosphate binders
what is alfacalcidol?
hydroxylated vit D - doesnt need activation by kidneys
what is a patients GFR when they are given patient education on dialysis?
about 20ml/min
how long after the procedure can a arteriovenous fistula be used?
needs 6 weeks to mature
when are patients referred to the vascular surgeons for arteriovenous fistula?
when GFR is about 15ml/min
when can patients be listed for cadaveric transplantation?
when they are within 6 months of requiring dialysis
functions of the kidneys? (8)
- excretion of nitrogenous waste
- fluid balance
- electrolyte balance
- acid-base balance
- vit D metabolism/phosphate excretion
- production of erythropoiten
- drug excretion
- barrier to loss of proteins
what can a build up of urea in the blood lead to?
pericarditis, encepalopathy, neuropathy, gastritis
what affect do NSAIDS have on the kidney?
can cause an allergic reaction within kidney and they also reduce GFR
what antibiotics should you ask about in a drug history for a renal history?
gentamicin, trimethoprim, penicillins
what investigation can lead to acute kidney injury?
radiology contrast
what GI drug can damage the kidneys?
PPI
what must diastolic BP be above to classify as accelerated hypertension?
120 mmHg
what can be seen in the eyes in accerlerated hypertension?
papilloedema
what is the usual distribution of Henoch-Schonlein Purpura?
often on extensor surfaces and on the buttocks
what mediates Henoch-Schonlein purpura ?
IgA
what is present in urine when it is a smoky brown colour?
myoglobin
how does myoglobin end up in the urine?
breakdown of muscle causing a release of myoglobin which is deposited in kidney
what does it suggest if there is isomorphic RBCs present in urine?
the blood is coming from lower down the renal tract
what does it suggest if there is dysmorphic red blood cells in urine?
that they are coming from upper renal tract
what is acute kidney injury defined as?
decline in GFR over hours/days/weeks with or without oliguria
definition of oliguria?
what 3 things defines nephrotic syndrome?
- proteinuria > 3g/day
- hypoalbuminaemia
- oedema
what is nephrotic syndrome often associated with?
hypercholesterolaemia
what is the renal function often like in nephrotic syndrome?
often normal
where do patients get oedema in nephrotic syndrome?
periorbital oedema
do patients with nephrotic syndrome get pulmonary odema?
no but can get pleural effusions
signs in nephritic syndrome?
- acute kidney injury
- oliguria
- oedema/fluid retention
- hypertension
- active urinary sediment
definition of acute kidney injury?
an abrupt (26.4 umol/l
- OR increase in creatinine by >50%
- OR a reduction in urine output
3 main pre-renal causes of AKI?
- hypovolaemia
- hypotension
- renal hypoperfusion
what drugs can cause renal hypoperfusion?
- NSAIDS/COX-2
- ACEi/ARBS
what is oliguria defined as?
when should ACEi be stopped?
if patient is vomitting/diarrhoea as this can lead to severe dehydration
how can ACEi cause a reduction in GFR?
angiotensin II mediates arteriolar vasoconstriction therefore increasing GFR. ACEi block angiotensin II so can cause a fall in GFR by causing efferent arteriole vasodilation
what does untreated pre-renal AKI lead to?
acute tubular necrosis
what is the commonest form of AKI in hospital?
acute tubular necrosis
common causes for acute tubular necrosis?
sepsis and severe dehydration
causes of vascular renal AKI?
vasculitits, renovascular disease
what can happen at thr glomerular that causes AKI?
glomerulonephritis
what things can cause interstitial nephritis?
- drugs
- infection eg TB
- systemic eg Sarcoid
what is tubular injury due to ischaemia due to?
prolonged renal hypoperfusion
what drugs are nephrotoxic and can cause acute tubular necrosis?
- antibiotics eg gentamincin, penicillin
- NSAIDS
- occasionally PPIs
what scan can cause acute tubular injury in AKI?
CT contrast
what condition associated with myoglobin being present in urine causes tubular injury?
rhabdomyolysis
symptoms of AKI?
- non specific symptoms
- nausea and vomitting
- itch
- oedema, SOB
signs of AKI?
- fluid overload- oedema, effusions
- uraemia
- oliguria
what would eosinophilia in AKI make you think of?
interstitial nephritis
if CK is high in AKI, what would you be thinking of?
rhabdomyolysis
initial investigations in AKI?
- U&Es
- FBC and coag screen
- Urinalysis
- USS
- Immunology
- Protein electrophoresis
what small kidneys on US suggest?
CKD
what else do you look for on US?
obstruction
what would abnormal clotting suggest in AKI?
?sepsis
? disseminated intravascular coagulation
what could anaemia suggest in AKI?
- CKD
- ?myeloma
what would you look for in immunology in AKI?
- ANA (SLE)
- ANCA (vasculitits)
- GBM (Goodpastures)
what is protein electrophoresis and bens-jones protein used to look for?
myeloma
who should receive a myeloma screen in AKI?
everyone over 50
what is a renal biopsy send to the lab for?
- light microscopy
- electron microscopy
- immunofluorescence
how can trimethoprim cause AKI?
causes a rise in creatinine and potassium
what is post renal AKI due to?
obstruction of urine flow leading to back pressure (hydronephrosis) and thus loss of concentrating ability
causes of obstruction?
- calculi
- tumours
- strictures
- extrinsic pressure
what is the normal range of potassium?
3.5-5.0
what is hyperkalaemia classed as?
K> 5.5
what is life threatening hyperkalaemia classed as?
K> 6.5
if potassium is 6-7, what will the ECG look like?
peaked T waves
what happens as potassium goes up on the ECG?
- peaked T waves
- flattened P wave, prolonged PR interval, depressed ST segment, widened QRS etc
what should be given initially in acute hyperkalaemia?
10mls 10% calcium gluconate (over 2-3mins)
why should calcium gluconate be given immediately in acute hyperkalaemia?
it stabilised and protects the myocardium and reduced risk of arrythmias. does not lower potassium
what should be given after calcium gluconate to lower the potassium levels?
insulin (actrapid 10 units) with 50mls 50% dextrose
what does calcium resonium do?
prevents reabsorption of potassium in the GI tract
what are the urgent indications for dialysis in AKI?
- hyperkalaemia (>7)
- severe acidosis (pH40, pericardial rub/effusion
40 year old male presenting with general malaise and haemoptysis. urea 28, creatinine 600, eleveated ant-GBM?
Goodpastures syndrome
25 year old IVDU found collapsed at home? high creatinine, urea and CK?
Rhabdomyolosis
82 year old man admitted with hypotension, tachycardia, potassium high, urea high, CRP 250, CXR shows left basal consolidation?
Acute tubular necrosis
does furosemide cause hyperkalaemia?
no it is potassium sparing
risk factors for developing AKI?
age, diabetes, CKD, co-morbidity eg liver failure, heart failure etc
what is the most common cause of end stage renal failure?
diabetic nephropathy
what is the 2nd most common cause for end stage renal disease?
chronic glomerulonephritis
what is glomerulonephritis?
immune-mediated disease of the kidneys affecting the glomeruli (with secondary tubulointerstital damage)
how can the humoral response cause GN?
- antibody-mediated
- antigen intrinsic to the glomeruli or a planted antigen from circulation gets stuck in glomeruli causing antibody response and deposition of circulating immune complexes
what type of immune cell can cause GN?
T cells
what is the capillary lumen of the glomerulus lined by?
endothelium
what layer of the glomerulus capillary is the podocytes on?
epithelial layer
what separates the endothelial layer and the epithelial layer of glomerulus capillary?
the thick basement membrane
what is Bowmans space between?
the visceral and parietal epithelium
what does GN do to the glomerular capillary wall?
disruption of barrier leads to haematuria and/or proteinuria
what does damage to endothelial or mesangial cells lead to?
a proliferative lesion and red cells in urine
what does damage to podocytes lead to?
non-proliferative lesion and protein in urine
what classes as microalbuminuria?
30-300mg albuminuria/day
what classes as asymptomatic proteinuria?
what classes as heavy proteinuria?
1-3 g/day
how much protein must be in urine to be nephrotic syndrome?
> 3 g/day
what is the criteria for nephritic syndrome?
- acute renal failure
- oliguria
- odema/fluid retention
- hypertension
- active urinary sediment
what type of process is occuring in nephritic syndrome?
a proliferative process
what type of process is occuring in nephrotic syndrome?
non proliferative process
where is the site on damage in nephrotic syndrome?
podocytes on epithelial layer
complications of nephrotic syndrome?
- infections
- renal vein thrombosis
- PE
- volume depletion
- vit D defiency
- subclinical hypothyriodism
why is there an increased of infection in nephrotic syndrome?
there is a loss of opsoning antibodies from circulation (due to loss of fluid from ICF)
what causes volume depletion in nephrotic syndrome?
overaggressive use of diuretics
what causes the majority of GN?
primary - idiopathic
secondary causes of GN?
- infections or drugs
- associated with malignancy or part of systemic diease eg ANCA-associated vasculitis, SLE, Goodpastures,HSP
what investigations are done in suspected GN?
- renal biopsy
- light microscopy, immunofluoresence, electromicroscopy
what is meant by focal GN?
what is meant by diffuse GN?
more than 50% of glomeruli affected
what is meant by global GN?
all of glomerulus affected
what is meant by segmenal GN?
part of glomerulus affected
what causes crescent in the GN?
epithelial cell extracapillary proliferation
2 routes of treatment options for GN?
- non-immunosuppressive
- immunosuppressive
what is the non-immunosuppressive treatment for GN?
- anti-hypertensives
- statins
- ?anticoagulants
- ?omega 3 fatty acids/fish oil
what is used as antihypertensives in GN?
- ACEi/ARBs
- diuretics
when should anticoagulants be used in GN?
if patient is profoundly hypoalbuminaemic
when would you use LMWH in GN?
if albumin is less than 20
immunosuppression drugs that can be used in GN?
- corticosteroids
- azathioprine
- alkylating agents
- calcineurin inhibitors
- mycophenolate mofetil
examplesof corticosteroids used in GN?
- prednisolone PO
- MethylPred IV
what is azathioprine?
an old anti-prolferative agent
examples of alkylating agents used in GN?
- cyclophosphamide
- chlorambucil
examples of calcineurin inhibitors in GN?
cyclosporin and tacrolimus
when is plasmapharesis used in GN?
in situations where there is a high volume of antibody
what antibody based treatments are there for GN?
- IV immunoglobulin
- monoclonal T or B cell antibodies
general treatment of nephrotic patients?
- fluid restriction
- salt restriction
- diuretics
- ACEi/ARBs
- ?anticoagulation
when would you give IV albumin in a nephrotic patient?
only if they are volume depleted
definite treatment of the nephrotic patient?
immunosuppression
what is complete remission of nephrotic syndrome classed as?
proteinuria
what is partial remission of nephrotic syndrome classed as?
proteinuria
what are the 5 main types of primary/idiopathic GN?
- minimal change
- focal segmental glomerulosclerosis (FSGS)
- membranous GN
- membranoproliferative GN
- IgA nephropathy
what is the commonest cause of GN in children?
minimal change nephropathy
what does minimal change nephropathy look like on LM, IF and EM?
normal renal biopsy on LM and IF with foot process fusion on EM
what percent of patients go into complete remission with oral steroids in minimal change nephopathy?
94%
what is a second line drug for minimal change nephropathy?
cyclophosphamide/CSA
what has been identified as a possibly cause of minimal change nephropathy?
IL-13
does minimal change nephropathy cause progressive renal failure?
no
what is the commonest cause of nephrotic syndrome in adults?
focal segmental glomerulosclerosis
what can focal segmental glomerulosclerosis be secondary to?
- HIV
- Heroin use
- Obesity
- Reflux nephropathy
appearance of focal segmental glomerulosclerosis on immunofluresence?
minimal Ig and complement deposition
what percentage of patients with focal segmental glomerulosclerosis go into remission with prolonged steroids?
60%
what do 50% of patients focal segmental glomerulosclerosis progress to?
end stage renal failure after 10 years
what do 67% of patients with focal segmental glomerulosclerosis have increased levels of?
soluble urokinase plasminogen activator receptor (suPAR)
what is the second most common cause of nephrotic syndrome in adults worldwide?
membranous nephropathy
what are the important secondary causes of membranous nephropathy?
- infections
- connective tissue diease
- malignancies
- drugs
what infections can cause membranous nephropathy?
hep B, parasites
what drugs can can membranous nephropathy?
gold/penicillamine
treatment options for membranous nephropathy?
- steroids
- alkylating agents
- B cell monoclonal Ab
what % of patients with membranous nephropathy progress to end stage renal failure in 10 years?
30%
in other 65s, what % of patients with membranous nephropathy have an underlying malignancy?
25%
what has been identified as the case of primary membranous nephropathy in about 70% of cases?
Anti PLA2r antibody
where is Anti PLA2r antibody deposited in membranous nephropathy?
between glomerular BM and podocytes
what is the commonest GN in the world?
IgA nephropathy
what does a renal biopsy show in IgA nephropathy?
mesangial cell proliferation and expansion on light microscopy with IgA deposits in mesangium on immunofluoresence
when is macroscopic haematuria usually present in IgA nephropathy?
after resp/GI infection
what other systemic feature is IgA nephropathy assocaited with?
Henoch-Schonlein Purpura (HSP)
what type of rash is Henoch-Schonlein Purpura ?
purpuric, non-blaunching rash
managment of IgA nephropathy?
BP control with ACEi and ARBS. Fish oil
what ANCA -positive causes are there for rapidly progressive GN?
GPA
MPA
what ANCA-negative causes are there for rapidly progressive GN?
- Goodpastures
- Henoch scholein purpura/IgA
- SLE
how can a crescent lead to necrotic glomerulus?
- glomerulus becomes compressed and ischemic then necrotic
what are the anti-GBM antibodies acting against in Goodpastures diseae?
the BM of glomeruli and BM of alveoli
treatment for rapidly progressive GN?
- treatment should be prompt
- strong immunosuppression with supportive care including dialysis if needed
what is overt diabetic nephropathy is chaacterized by?
persistent albuminuria ie 300mg/24h on at least 2 occasions spearated by 3-6 months
what affect does diabetic nephropathy have on the afferent arteriole?
it causes vasodilation
what does dilation of the afferent arteriole in diabetic nephropathy cause?
hyperfilatration at the glomeruli, increased GFR initially, increased pressure
pathogenesis of diabetic nephropathy?
- renal hypertrophy
- mesangial expansion
- nodule formation
- inflammation
- proteinuria
- tubulo-interstitial fibrosis
what are the lesions called in nodular diabetic glomerulosclerosis?
Kimmelsteil-Wilson lesion
what is renovascular hypertension?
a secondary form of hypertension usually caused by renal artery stenosis
what conditions come under renovascular disease?
- fibromuscular dysplasia
- atherosclerotic renovascular disease
what is ischaemic nephropathy?
- refers to the reduced GFR associated with reduced renal blood flow beyond the level of autoregulatory compensation
what can ischaemic nephropathy lead to over time?
renal atrophy and progressive CKD
what sex is fibromuscular dysplasia more likely to affect and what age group?
females, 15-50 years
what % of fibromuscular dysaplasia is familial?
10%
what other conditions is fibromuscular dysplasia associated with?
other heriditary condition eg Ehlers-Danlos and Marfans
what other arteries other than the renal arteries can fibromuscular dysplasia involve?
cerebral arteries eg carotid artery
what is multiple myeloma?
cancer of plasma cells
what can cause kidney problems in multiple myeloma?
multiple myelomas feature the production of a paraprotein - an abnormal antibody which can cause kidney problems
signs of multiple myeloma?
- anaemia
- hypercalcaemia
- renal failure
- amyloidosis
- recurrent infection
symptoms of multiple myeloma?
- bone pain
- weakness
- fatigue
- weight loss
what can cause bone pain in a multiple myeloma?
- from the lytic bone lesions
- or from the hypercalcaemia
why is a dipstick test in multiple myeloma often negative for protein?
- dipstick looks for albumin
- in multiple myeloma, abnormal proteins are lost in MM
what urine test is used to investigate multiple myeloma?
Bence-Jones protein in urine
average age for myeloma in males?
80
average age for myeloma in females?
70
what is amyloidosis characterised by?
the deposition in extracellular spaces of a proteinaceous material
what are the 2 types of renal amyloidosis?
primary (AL) amyloid and secondary (AA) amyloid
what is the classic histology of amyloidosis?
positive Congo red staining showing apple-green birifringence under polarised light
what things can cause secondary amyloidosis?
a chronic inflammatory condition eg RA, myeloma, IBD etc
when does small vessel vasculitits associated with ANCA usually present?
in 5th, 6th and 7th decade
how can GPA (Wegners) affect the nose?
nasal crusting, sinusitis, persistent rhinorrhea, otitis media, oral/nasal ulcers, bloody nasal discharge
what is eGPA (churg-strauss) classically characterised by?
late-onset asthma and eosinophilia
what % of patients with lupus have renal involvement at presentation?
up to 50%
what is a type A drug reaction?
-augmented pharmacologic effects which is dose dependent and predictable
type B drug reaction?
bizarre effects - dose independent and unpredictable
type C drug reaction?
chronic effects
type D drug reaction?
delayed effects
type E drug reactions?
end-of-treatment effects
type F drug reaction?
failure of therapy
what can long term use of NSAIDS cause?
hypertension
what causes the adverse reaction in type E?
- end of treatment
- abrupt withdrawal of drug and rebound effect
what type of adverse reaction is a drug-drug interaction?
type A
why should patients stop taking their statin when they are on antibiotics?
taking them together increases the risk of muscle aches and pains largely
why must you be careful when prescribing an ACEi and sulphonylurea at the same time?
ACEi increase hypoglycemic effect of SU
what do patients with Parkinsons have an increased risk of when you prescribe them a drug?
increased risk of drug induced confusion
what drugs can cause urinary retention in BPH?
- decongestants
- anticholinergics eg tiotropium bromide
what drugs lower seizure threshold?
- neuroleptics, tramadol, quinolones
what drug does food high in Vit E&K interact with?
warfarin
what foods are rich in potassium?
bananas, oranges, green leafy vegetables
what drugs interact with potassium rich foods?
- ACEi
- ARBs
- K-sparing diuretics
why is there an adverse reaction if beta blockers are stopped abruptly?
there is a loss of physiological “coping”
examples of a type D drug reaction?
- secondary malignancy post chemotherapy
- craniofacial abnormalilties in children of women taking isotretinoin
prelonged therapy on what drug can cause Cushings disease?
steroid therapy
what disease can prolonged treatment of beta-blocker cause?
diabetes
if a drug in the BNF has a black triangle next to it?
a new drug, to caution prescriber to be extra vigilent when prescribing it as everything is not known about it
what is the most frequent life-threatening hereditary disease?
ADPKD
does type 1 or type 2 ADPKD progress to end stage renal failure at an earlier stage?
type 1 develops ESRF at earlier stage
in ADPKD, how long after the presentation of renal cysts do liver cysts present?
about 10 years later
in patiens with ADPKD, when should they be screened for berry aneurysms?
family history
what cardiac problems can someone with ADPKD get?
mitral/aortic prolapse
what GI disease do patients with ADPKD have an increased prevelance of?
diverticular disease
what will be seen on US in ADPKD?
mutiple bilateral cysts, renal enlargement
how early can early onset ADPKD present?
in utero or first year of life
managment of ADPKD before dialysis?
- rigorous control of hypertension
- hydration
- proteinuria reduction
- control cyst haemorrhage and/or infection
in ARPKD, where are cysts seen arrising from?
the collecting duct system
how is 85% of alports syndrome cases inherited?
X-linked inheritance
what is there a disorder of in alprorts syndrome?
type IV collagen matrix
what is the mutation in alports syndrome?
COL4A5 gene
how does alports usually present?
haematuria
when is proteinuria seen in alports?
later in disease
what are the extra renal manifestations of alports?
- sensorineural deafness
- ocular defects - anterior lentoconus
- leiomyomatosis of oesophagus/genitalia - rare
what is seen on renal biopsy of alports?
variable thickness of GBM, with splitting of the lamina densa
what is anderson fabrys disease? what is the deficiency?
inborn error of Glycosphingolipid metabolism. deficiency of alpha-galactosidase A
how is anderson fabry disease inherited?
X linked
what organs/cells does anderson fabry disease affect?
kidneys, liver, lungs, erythrocytes
how is anderson fabrys disease diagnosed?
- plasma/leuocyte a-GAL activity
- skin biopsy
- renal biopsy
clinical features of anderson fabry disease?
- renal failure
- cutaneous- angiokeratomas
- cardiomyopathy, valvular disease
- stroke, acroparaesthsia
- psychiatric
what can be seen in renal biopsy of anderson fabry disease?
concentric lamellar inclusions within lysosomes
what is the treatment of anderson fabrys disease?
enzyme replacement - Fabryzyme
inheritance pattern of medullary cystic kidney?
autosomal dominant
what is the morphology of medullary cystic kidney?
abnormal renal tubules leading to fibrosis
where are the cysts located in medullary cystic kidney?
in the corticomedullary junction/medulla
what is the average presentation age of medullary cystic kidney?
28 years
what is the best choice of treatment in medullary cystic kidney?
renal transplantation
what happens to the collecting ducts in medullary sponge kidney?
they dilate
what do they cysts contain in medullary sponge kidney?
they have calculi
how is the diagnosis of medullary sponge kidney diagnosed?
by excretion urography - to demarcate calculi
what is the first pharmacological option fr arresting the disease process in ADPKD?
tolvaptan
