Inherited Kidney Disease Flashcards
(37 cards)
what is the most frequent life threatening hereditary kidney disease
autosomal dominant polycystic kidney disease
what is the most common inheritance of polycystic kidney disease
autosomal dominant
what are the genetic mutations associated with autosomal dominant polycystic kidney disease
PKD1 on chromosome 16 (most common)
PKD2 on chromosome 4
-has prognostic impact
which mutation means patients reach end stage kidney disease earlier
PKD1
what is the pathology of ADPKD
- massive cyst enlargement leading to large kidneys
- epithelial lined cysts arise from a small population of renal tubules
- benign adenomas in 25% of kidneys (or cancers due to transformation)
what are clinical features of ADPKD
- reduced urine concentration
- chronic pain
- hypertension (early symptom)
- haematuria
- cyst infection
- renal failure
what are some extra renal clinical features of ADPKD
- hepatic cysts (common and usually around 10 years after renal cysts)
- intracranial aneurysms (less common, seen in family clusters)
- cardiac disease
- diverticular disease
- hernias
what symptoms can liver cysts cause
shortness of breath, pain and ankle swelling
how is ADPKD diagnosed
ultrasound -multiple bilateral cysts -renal enlargement CT/MRI is USS is unclear genetic -linkage analysis to identify chromosomal mutations
in children how can ADPKD be distinguished from ARPKD
no suggestion of congenital hepatic fibrosis on ultrasound
how is ADPKD managed
HBP control, hydration, proteinuria reduction, prompt management of cyst haemorrhage and infection
what is the first drug used in PKD that is shown to slow loss of kidney function
tolvaptan (ADH receptor antagonist)
what is the genetic mutation for autosomal recessive polycystic kidney disease
PKDH1 on chromosome 6
what is seen histologically in ARPKD
cysts appearing from collecting duct system
-renal involvement is bilateral and symmetrical
what are clinical features of ARPKD
varies depending on liver/renal lesions
- kidney always palpable
- hypertension
- recurrent UTI’s
- slow decline in GFR
what is the inheritance of familial glomerular syndromes (alports syndrome (hereditary nephritis))
x-linked inheritance (85%)
what is alports syndrome a disorder of
type 4 collagen matrix
what mutation leads to deficient collagenous matrix deposition in alports syndrome
COL4A5
what are clinical features of alports syndrome
- heamaturia (characteristic)
- proteinuria (latter and bad sign)
what are some extra-renal manifestations of alports syndrome
- sensorineural deafness
- ocular defects
- leiomyomatosis of oesophagus/genitalia
what is diagnosis of alports syndrome
renal biopsy (variable thickness GBM is characteristic)
what is treatment for alports syndrome
- hpb management
- proteinuria management
- dialysis/transplant
what inheritance does anderson fabrys disease have
x-linked
where does anderson fabrys disease affect
kidneys, liver, lungs, erythrocytes
