inherited disorders of kidney Flashcards
(28 cards)
what are the two types of polycystic kidney disease
- autosomal dominant
- autosomal recessive
which gene mutation is the autosomal dominant polycystic kidney disease found on
PKD1 gene on chromosome 16 (most common)
PKD2 mutations on chromosome 4 (less common)
which gene group of ADPKD are more likely to develop end stage kidney failure
PKD1
pathophysiology of ADPKD
- massive cyst enlargement
- epithelial lined cysts arise from a small population of renal tubules
clinical features of ADPKD
- reduced urine concentration
- chronic pain
- hypertension
- haematuria
- cyst infection
- renal failure
extra-renal clinical features of ADPKD
- hepatic cysts
- intra-cranial aneurysms
- cardiac disease (valve prolapse, valvular disease)
- diverticulitis
- colonic perforation
- hernias
diagnosis of ADPKD
- USS (CT/MRI unclear on USS)
- genetic (mutation analysis)
what is this
cystic kidney on CT
what is this
cystic calcification on X-ray
are cerebral aneurysms common in children with ADPKD
no
management of ADPKD
- manage hypertension
- hydration
- proteinuria reduction
- Tolvaptan to reduce cyst volume and progression
treatment for renal failure
- dialysis
- transplantation
who gets autosomal recessive kidney disease
young children and constantly associated with hepatic lesions
where is the gene for ARPKD found
PKDH1 on chromosome 6
clinical presentation of ARPKD
- varies depending on the renal/liver lesions
- kidneys always palpable
- hypertension
- recurrent UTI’s
- slow decline in GFR
what is alports syndrome a disorder of
type IV collagen matrix
presentation of Alports
- haematuria
- proteinuria
- sensorineural deafness
- ocular defects (anterior lenticonus)
- leiomyomatosis of oesophagus/genitalia
diagnosis for Alports
suspect in patients with microscopic haematuria +/- hearing loss
-renal biopsy (variable thickness GBM)
treatment for Alports
no specific treatment
- standard aggressive treatment of BP and proteinuria
- dialysis/transplantation
what is anderson fabrys disease
inborn error of glycosphingolipid metabolism
- affects lysosomal storage in kidneys, liver, lungs, erythrocytes
- uncommon
presentation of anderson fabrys disease
- renal failure
- angiokeratomas
- cardiomyopathy
- valvular disease
- stroke
- acroparaethesia
- psychiatric
diagnosis of Fabrys
- plasma/leukocyte
- renal biopsy
- skin biopsy
treatment for anderson fabrys
- enzyme replacement (fabryzyme)
- managment of complications
what is medullary cystic kidney disease
morphologically abnormal renal tubules leading to fibrosis
-cysts are in the corticomedullary junction/medulla
