Abstract
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney disease in a 50-year-old female without a family history, who died of complications of the disease which included accelerated hypertension, and renal and cardiac failure.
Highlights
Autosomal dominant polycystic kidney disease (ADPKD) is the more common variant (80%) of polycystic kidney disease with a prevalence of 1 to 2 cases per 400 to 1000 live births [1]
Most cases are believed to be a result of a mutation in gene products of either the PKD1 or PKD2, which are responsible for producing the proteins polycystin-1 and polycystin-2, respectively
Cysts are believed to be formed by abnormal cell differentiation leading to excessive proliferation and fluid secretion
Summary
Autosomal dominant polycystic kidney disease (ADPKD) is the more common variant (80%) of polycystic kidney disease with a prevalence of 1 to 2 cases per 400 to 1000 live births [1]. More than 50% of those carrying inherited mutations in the genes responsible for ADPKD will go undetected throughout a patient’s lifetime This suggests a benign clinical course [4]. PKD2’s gene product, polycystin-2 protein product, is 1000 amino acids in length and involved in cell calcium signaling. Mutations in these genes are thought to cause abnormal cell differentiation leading to various types of structural and biochemical derangements in the epithelia of renal tubules and bile and pancreatic ducts
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