Autosomal dominant polycystic kidney disease linked to PKD2 locus in a family with severe extrarenal manifestations.
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.
Bozza
A
A
Centro di Studi Biochimici delle Patologie del Genoma Umano, Ferrara, Italy.
Aguiari
G
G
Scapoli
C
C
Scalia
P
P
Perini
L
L
De Paoli Vitali
E
E
del Senno
L
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008107:Liver Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics*; D050396:TRPP Cation Channels
D004247:DNA; D005819:Genetic Markers; D008565:Membrane Proteins; D050396:TRPP Cation Channels