Polycystic kidney disease classification: Difference between revisions
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==Classification== | ==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.<ref name="pmid17434405">{{cite journal| author=Torres VE, Harris PC, Pirson Y| title=Autosomal dominant polycystic kidney disease. | journal=Lancet | year= 2007 | volume= 369 | issue= 9569 | pages= 1287-301 | pmid=17434405 | doi=10.1016/S0140-6736(07)60601-1 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17434405 }} </ref> | 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.<ref name="pmid9611728">{{cite journal| author=Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L et al.| title=[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]. | journal=Med Clin (Barc) | year= 1998 | volume= 110 | issue= 13 | pages= 481-7 | pmid=9611728 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9611728 }} </ref> A third type that is still to be identified accounts for patients with clinical ADPKD without any documented mutation of either PKD1 or PKD2.<ref name="pmid17434405">{{cite journal| author=Torres VE, Harris PC, Pirson Y| title=Autosomal dominant polycystic kidney disease. | journal=Lancet | year= 2007 | volume= 369 | issue= 9569 | pages= 1287-301 | pmid=17434405 | doi=10.1016/S0140-6736(07)60601-1 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17434405 }} </ref> | ||
==References== | ==References== |
Revision as of 22:05, 16 November 2013
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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.[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]
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.