Polycystic kidney disease: Difference between revisions

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Revision as of 23:13, 19 August 2012

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For patient information page, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun M.D., PhD., Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Polycystic kidney syndrome; polycystic kidney; PKD

Overview

Pathophysiology

Epidemiology & Demographics

Differentiating Polycystic kidney disease from Other Diseases

Natural History, Complications & Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory tests

Adult type Polycystic kidney disease

Resources

The PKD Foundation is the only non-profit organization worldwide dedicated solely to PKD research. Parent of two children with ARPKD blog: www.kidneysandeyes.com

External links

http://www.ncbi.nlm.nih.gov/disease/PKD.html

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 '''For patient information page, click [[{{PAGENAME}} (patient information)|here]]
-{{CMG}}; {{AE}}  [[User:zorkun|Cafer Zorkun]] M.D., PhD.
+{{CMG}}; {{AE}}  [[User:zorkun|Cafer Zorkun]] M.D., PhD., {{AN}}
 {{SK}} Polycystic kidney syndrome; polycystic kidney; PKD
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 ==[[Polycystic kidney disease natural history|Natural History, Complications & Prognosis]]==
-==Diagnosis==
+==[[Polycystic kidney disease diagnosis|Diagnosis]]==
-A definite diagnosis of ADPKD relies on imaging or molecular [[genetic testing]]. The sensitivity of testing is nearly 100% for all patients with ADPKD who are age 30 years or older and for younger patients with PKD1 mutations; these criteria are only 67% sensitive for patients with PKD2 mutations who are younger than age 30 years. Large [[echogenic]] kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of [[hepatic]] cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptive, but not definite, evidence for the diagnosis.
+:[[Polycystic kidney disease history and symptoms|History and Symptoms]] | [[Polycystic kidney disease physical examination|Physical Examination]] | [[Polycystic kidney disease laboratory tests|Laboratory tests]]
-Molecular [[genetic testing]] by [[linkage analysis]] or direct mutation screening is available clinically; however, genetic heterogeneity is a significant complication to molecular genetic testing. Sometimes a relatively large number of affected family members need to be tested in order to establish which one of the two possible genes is responsible within each family. The large size and complexity of PKD1 and PKD2 [[gene]]s, as well as marked allelic heterogeneity, present obstacles to molecular testing by direct DNA analysis. In the research setting, [[mutation]] detection rates of 50-75% have been obtained for  PKD1 and ~75% for  PKD2. Clinical testing of the  PKD1 and  PKD2 genes by direct [[sequence analysis]] is now available, with a detection rate for disease-causing mutations of 50-70%.
-[[Genetic counseling]] may be helpful for families at risk for polycystic kidney disease.
 ===Adult type Polycystic kidney disease===

v t e Congenital malformations and deformations of sex organs (Q50-Q56 · 752)
Female	Template:Navbox subgroup
Male	Template:Navbox subgroup
SDS/DSD	Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome
See also noncongenital, neoplasia