Polycystic kidney disease is most accurately described as which genetic pattern?

• A. Autosomal recessive mutation in PKD1 or PKD2
• B. Autosomal dominant mutation in PKD1 or PKD2
• C. X linked mutation in PKD
• D. Mitochondrial inheritance pattern

Answer: (B)

Polycystic kidney disease is best described as an autosomal dominant disorder caused by mutations in PKD1 or PKD2. In autosomal dominant conditions, a single mutated gene copy is enough to produce disease, so an affected individual has a 50% chance of passing it to each child. PKD1 mutations (most common) and PKD2 mutations both lead to multiple bilateral renal cysts with progressive hypertension and renal failure over years. This pattern also explains why the disease often appears in multiple generations and can vary in severity among individuals. While there is a rarer autosomal recessive form (infantile PKD) and other inheritance patterns are not typical for the classic form, the common presentation aligns with autosomal dominant transmission due to PKD1 or PKD2.