Polycystic kidney disease classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul

Overview

ADPKD has 2 major types ADPKD1 due to PDK1 mutation, and ADPKD2 due to PDK2 mutation. A third subtype can be considered in patients without any documented mutation.

Classification

No official classification scheme for ADPKD has been proposed. In general, 3 types of ADPKD can be recognized based on the gene mutation identified. ADPKD1 (Type 1) seen in almost 85% of patients refers to patients with PDK1 mutations, while ADPKD2 seen in around 10-15% of cases denotes a mutation PDK2. A third type that is still to be identified accounts for patients with clinical ADPKD without any documented mutation of either PKD1 or PKD2.[1]

References

  1. Torres VE, Harris PC, Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405.

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