Document Detail

Autosomal dominant polycystic kidney disease linked to PKD2 locus in a family with severe extrarenal manifestations.
MedLine Citation:
PMID:  9382166     Owner:  NLM     Status:  MEDLINE    
We report a large three-generation autosomal dominant polycystic kidney disease family from Northern Italy found to be associated with the PKD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal diverticula (1 case) were present in affected individuals. Among the older members, the males (aged 54-61 years) had hepatic cysts or fibrosis and were on chronic hemodialysis, the females (aged 69 and 70 years) had hepatic cysts, hepatomegaly, mild fibrosis and a mild and moderate renal impairment, respectively. In this family, clinical findings do not differ substantially from those reported for PKD1.
A Bozza; G Aguiari; C Scapoli; P Scalia; L Perini; E De Paoli Vitali; L del Senno
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of nephrology     Volume:  17     ISSN:  0250-8095     ISO Abbreviation:  Am. J. Nephrol.     Publication Date:  1997  
Date Detail:
Created Date:  1997-11-10     Completed Date:  1997-11-10     Revised Date:  2007-10-18    
Medline Journal Info:
Nlm Unique ID:  8109361     Medline TA:  Am J Nephrol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  458-61     Citation Subset:  IM    
Centro di Studi Biochimici delle Patologie del Genoma Umano, Ferrara, Italy.
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MeSH Terms
DNA / analysis
Genetic Markers
Linkage (Genetics) / genetics*
Liver Diseases / complications,  diagnosis,  genetics*
Membrane Proteins / genetics*
Middle Aged
Polycystic Kidney, Autosomal Dominant / complications,  genetics*
TRPP Cation Channels
Reg. No./Substance:
0/Genetic Markers; 0/Membrane Proteins; 0/TRPP Cation Channels; 0/polycystic kidney disease 2 protein; 9007-49-2/DNA

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