Which gene is most commonly mutated in autosomal dominant polycystic kidney disease (ADPKD)?
Correct Answer: PKD1
Description: PKD1 gene codes for polycystin-1 and is located on chromosome 16p13.3. Polycystin-1 is expressed in tubular epithelial cells, paicularly those of the distal nephron. It contains domains that are usually involved in cell-cell and cell-matrix interactions. Mutations in PKD1 account for about 85% of cases. Numerous small cysts in the coex and medulla give the kidney a spongelike appearance. Cysts have a uniform lining of cuboidal cells. Multiple epithelium-lined liver cysts are also seen.
Category:
Pathology
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