Flashcards in Inherited Disorders of Kidneys Deck (21):
What is the most frequent life threatening hereditary disease?
Autosomal Dominant Polycystic kidney disease
In 85% of ADPKD, where is the mutation?
In the remaining 15% of ADPKD, where is the mutation?
Does PKD1 (ch.16) or PKD2 (ch.4) develop ESKF earlier?
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
What is first line for diagnosing ADPKD?
(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?
How should hypertension be managed in ADPKD patients?
What chromosome is involved in ARPKD?
What is the inheritance link in Alporrt's and Fabry's?
Which cystic disease is caused by mutation leading to Type IV collagen matrix disorder?
Which cystic disease is a lysosomal storage disease?
What are angiokeratomas and what are they associated with?
dark red clusters in umbilical area
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?
Which disease involves dilatation of collecting ducts and medullary spongy area?
medullary sponge kidney