Inherited Disorders of Kidneys Flashcards
What is the most frequent life threatening hereditary disease?
Autosomal Dominant Polycystic kidney disease
In 85% of ADPKD, where is the mutation?
chromosome 16
In the remaining 15% of ADPKD, where is the mutation?
chromosome 4
Does PKD1 (ch.16) or PKD2 (ch.4) develop ESKF earlier?
PKD1
What causes haematuria in ADPKD?
cyst rupture, stones, cystitis
What are extra renal features of ADPKD?
liver cysts (10 yrs after renal cysts) intra cranial aneurysms cardiac disease diverticular disease hernias
What is first line for diagnosing ADPKD?
US
only CT/MRI if unsuccessful
Is a single cyst enough for a diagnosis of ADPKD?
yes, if patient is high risk
What chance are children at of ADPKD if family history?
50%
How should hypertension be managed in ADPKD patients?
Ace Is
What chromosome is involved in ARPKD?
chromosome 6
What is the inheritance link in Alporrt’s and Fabry’s?
X linked
Which cystic disease is caused by mutation leading to Type IV collagen matrix disorder?
Alports
Which cystic disease is a lysosomal storage disease?
Fabry’s
What are angiokeratomas and what are they associated with?
dark red clusters in umbilical area
Fabry’s disease
What treatment is given for Fabry’s?
enzyme replacement (Fabryzyme)
What does an ultrasound show in Alport’s syndrome?
variable thickness of GBM
What does medullary cystic kidney disease look like?
kidneys are small, shrunken
How old do patients with medullary cystic disease normally present?
28 ish
Which disease involves dilatation of collecting ducts and medullary spongy area?
medullary sponge kidney
What type of kidney disease allows for patients to do well on dialysis and transplant compared to other types of renal disease?
polycystic kidney disease
