Polycystic kidney disease classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Serge Korjian, Yazan Daaboul
Overview
There is no established system for the classification of polycystic kidney disease. There are 2 types of polycystic kidney disease, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). 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. Autosomal recessive polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children.
Classification
There is no established system for the classification of polycystic kidney disease. In general, 3 types of autosomal dominant polycystic kidney disease (ADPKD) can be recognized based on the gene mutation identification:
- ADPKD1 (Type 1) seen in almost 85% of patients refers to patients with PDK1 mutations
- ADPKD2 (Type 1) seen in around 10-15% of cases denotes a mutation PDK2[1]
- A third type that is still to be identified accounts for patients with clinical ADPKD without any documented mutation of either PKD1 or PKD2[2]
- Autosomal recessive polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children[3]
References
- ↑ Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L; et al. (1998). "[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]". Med Clin (Barc). 110 (13): 481–7. PMID 9611728.
- ↑ 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.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sweeney WE, Avner ED. PMID 20301501. Vancouver style error: initials (help); Missing or empty
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