All are features of adult polycystic kidney disease except
Correct Answer: Tricuspid valve prolapse
Description: Ans: d) tricuspid valve prolapse It is mitral valve prolapse and not tricuspid valve prolapse that is classically associated with ADPCKDADPCKD:-* Inheritance: AD with high penetrance* Universally bilateral* Mutations - ADPKD1 - Ch. 16ADPCKD2 - Ch. 4* Renal function retained till 4th - 5th decade* PKD1 gene encodes Polycystin 1 in tubular epithelium of distal nephron. It is usually involved in the cell-cell and cell- matrix interactions.* PKD2 - Polycystin 2 - in all segments of renal tubule. It is a Ca++ permeable cation channel* Progression of the disease is accelerated in blacks with sickle cell trait.* Extrarenal manifestations in ADPCKDCysts - Liver- from biliary epitheliumSpleen, pancreas, lungsBerry aneurysm ( 5 - 10 %)Colonic diverticulaMitral valve prolapseMost common cause of death- CAD or hypertensive heart disease (40%).
Category:
Pathology
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