TOPIC 14: Cystic diseases of the kidney Flashcards
ADPKD (info+signs -also extrarenal)
Autosomal dominant polycystic kidney disease
- 1:1000
- mutations in PKD1(chromosome 16): 85% and reach ESRD by 50s
- mutations in PKD2(chromosome 4):15% have slower course reach ESRD by 70s
- disease can be silent for many years so family screening is very important
signs:
1) renal enlargement with cysts
2) abdominal pain
3) possibly hematuria (cyst rupture)
4) cyst infection
5) renal calculi
6) high BP
7) Progressive RF
EXTRARENAL:
1) liver cysts
2) intracranial aneurysm
3) subarachnoid hemorrhage
4) mitral valve prolapse
5) ovarian cysts
6) diverticular disease
ADPKD management
1) BP should be treated aggressively (<130/80mmhg)- ACEi
2) dialysis or transpl. for ESRD
3) laparoscopic cyst removal or nephrectomy in severe pain
4) increased water intake, decreased Na+ intake
PKD screening
- genetic screening for PKD1 is difficult as the gene is large and there are hundreds of described mutations
- screening for PKD2 mutations is available
US screening offers good sensitivity and specificity depending on age and the following criteria have a PPV near to 100%:
1) age 18-39 >3unilateral of bilateral cysts
2) age 40-59 > 2 cysts in each kidney
3) >60yrs >4cysts in each kidney
ARPKD (info +signs)
- 1:40,000
- mutation on PKHD gene on chromosome 6
- signs are variable and many present in infancy with multiple renal cysts and congenital hepatic fibrosis
- most pts progress to ESRD by the age of 15
- no specific therapy currently
medullary cystic disease (forms & signs 7 renal & 5 extrarenal)
- inherited disorder with tubular loss and medullary cyst formation
- AR: juvenile, 10-20% of ESRD in children
- AD: adult is rare
signs:
1) shrunken kidneys
2) cysts restricted to the medulla
3) salt wasting
4) polyuria, polydipsia
5) decreased enuresis (urine conc ability)
6) failure to thrive
7) renal impairment and ESRD
EXTRARENAL:
1) retinal degeneration
2) retinitis pigmentosa
3) skeletal changes
4) cerebellar ataxia
5) liver fibrosis
