Polycystic kidney disease classification: Difference between revisions
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==Overview== | ==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 | 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== | ==Classification== | ||
There is no established system for the classification of polycystic kidney disease | 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: | *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 | **ADPKD1 (Type 1) seen in almost 85% of patients refers to patients with [[PDK1]] [[mutations]] | ||
**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> | **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 | **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> | ||
*Autosomal recessive polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children | *[[Autosomal recessive]] polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children | ||
==References== | ==References== |
Revision as of 20:42, 14 May 2018
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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
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:
- Autosomal recessive polycystic kidney disease (ARPKD) was previously known as infantile polycystic kidney disease and occurs mainly in children
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.