inherited disorders of the kidney Flashcards
Polycystic Kidney Disease can be
autosomal dominantly or autosomally recessively inherited
most common type of polycystic kidney disease
autosomal dominant inheritance
polycystic kidney disease is the
4th leading cause of end stage renal failure
polycystic kidney disease causes the formation of
fluid filled cysts within the kidneys
autosomal dominant PKD is either caused by a
mutation of the PKD gene 1 on chromosome 16 or mutation of the PKD gene 2 on chromosome 4
mutations of the PKD gene 1 causes
end stage renal failure earlier than mutations of the PKD gene 2
in autosomal dominant polycystic kidney disease affected individuals have a
50% chance of having an affected child
autosomal dominant polycystic kidney disease causes massive
cyst enlargement causing abnormally large kidneys, epithelial lined cysts arise from a small population of renal tubules
presentation of autosomal dominant polycystic kidney disease
most people are completely asymptomatic early in the disease and don’t get symptoms until they are in there 30s and 40s
renal features of ADPKD
- reduced ability to concentrate urine causes excessive urination
- pain due to stretching of the renal capsule
- haematuria if the cyst ruptures
- cyst infections
- kidney stones
extra- renal features of ADPKD
- hypertension
- hepatic cysts are the most common extra-renal manifestation they tend to present 10 years after renal cysts, but they don’t cause any disruption to renal function can sometime cause fluid retention causing ankle oedema and shortness of breath
- intra-cranial aneurysms tend to occur in the anterior circulation and if they rupture they can cause a haemorrhage stroke
- cardiac disease= mitral/ aortic valve prolapse.colalgenous/ myxomatous degeneration
- diverticular disease has an increase prevalence and complications in those with autosomal dominant polycystic kidney disease who are on dialysis
- hernias= increased incidence of abdominal and inguinal hernias
screening for intra-cranial aneurysms is indicated in those
who have autosomal dominant polycystic kidney disease and have a family history of intra-cranial aneurysms however, it is not indicated in every person with autosomal dominant polycystic kidney disease
diagnosis of autosomal dominant polycystic kidney disease
- diagnosed on ultrasound which shows multiple enlarged bilateral cysts and renal enlargement
if ultrasound in inconclusive for the diagnosis of autosomal dominant polycystic kidney disease
MRI
If someone does not have genetic diagnosis with polycystic disease what should they be referred for
mutation analysis
autosomal dominant PKD does not usually present in who?
children however an early onset can be in utero or in the first year of life and suggests an aggressive mutation
autosomal dominant polycystic kidney disease is difficult to distinguish from what
autosomal recessive polycystic kidney disease but hepatic fibrosis on ultrasound suggests autosomal recessive disease rather than autosomal dominant disease
management of autosomal dominant polycystic kidney disease
- very rigorous hypertension control and adequate hydration
- new treatment called TOLVAPTAN
What is tolvaptan
a vasopressin V2 receptor antagonist
indications for usage of tolvaptan
autosomal dominant polycystic kidney disease in adults with chronic kidney disease stage 1-3 at initiation of treatment and evidence of rapidly progressive disease
autosomal dominant polycystic kidney disease will eventually cause
end stage renal failure and require dialysis and transplant
autosomal recessive polycystic kidney disease
is much less common that autosomal dominant polycystic kidney disease
in autosomal recessive polycystic kidney disease
both parents must have the mutation for there child to be affected by the disease
autosomal recessive polycystic kidney disease is caused by mutation
of the PKHD1 gene on chromosome 6
renal involvement in autosomal recessive polycystic kidney disease is
bilateral and symmetrical
