Cystic Kidney Diseases

Question 1

autosomal dominant PKD

Answer 1

adults, PKD1, PKD2 (polycystin heterodimers); 2nd hit; planar polarity disruption; associated HTN and cerebral aneurysms

Question 2

autosomal recessive PKD

Answer 2

children, PKHD1 (fibrocystin); oligohydramnios, Potter sequence, pulmonary hypoplasia, portal HTN, jaundice

Question 3

nephropthisis

Answer 3

children, autosomal recessive NPHP1, microcystic tubule dilation, interstitial fibrosis, retinitis pigmentosa, polyuria, dilute urine

Question 4

medullary cystic kidney disease

Answer 4

adults, autosomal dominant, microcystic tubule dilation, interstitial fibrosis, gout; uromodulin mutation (UMOD), mucin mutation (MCKD1); trapping causes tubular epithelial damage