What type of genetic disorder is polycystic kidney disease (PKD)?

What type of genetic disorder is polycystic kidney disease (PKD)?

• A. An autosomal recessive disorder.
• B. X-linked recessive disorder.
• C. An autosomal dominant disorder.
• D. Mitochondrial inheritance disorder.

Answer: (C)

Polycystic kidney disease is most often inherited in an autosomal dominant pattern. A single mutated copy of a PKD gene (most commonly PKD1 or PKD2) is enough to cause cyst formation in the kidneys and progressive dysfunction. This pattern typically appears across generations, affecting both men and women, which is characteristic of autosomal dominant disorders. There is a rarer autosomal recessive form that presents earlier and can be more severe, but the common, classic form fits autosomal dominant inheritance. X-linked recessive and mitochondrial inheritance would show different family patterns (male-only predominance for X-linked, maternal transmission for mitochondrial), so they do not describe PKD.

Polycystic kidney disease is most often inherited in an autosomal dominant pattern. A single mutated copy of a PKD gene (most commonly PKD1 or PKD2) is enough to cause cyst formation in the kidneys and progressive dysfunction. This pattern typically appears across generations, affecting both men and women, which is characteristic of autosomal dominant disorders. There is a rarer autosomal recessive form that presents earlier and can be more severe, but the common, classic form fits autosomal dominant inheritance. X-linked recessive and mitochondrial inheritance would show different family patterns (male-only predominance for X-linked, maternal transmission for mitochondrial), so they do not describe PKD.