inherited disorders of kidney Flashcards
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
when does medullary cystic kidney disease present
average age is 28 years
choice of treatment for medullary cystic kidney
renal transplant
diagnosis of medullary cystic kidney
family history
CT scan
what is medullary sponge kidney
- dilation of collecting ducts
- cysts have calculi
