Progression of kidney disease varies between families with defects in the polycystic kidney disease type 1 gene in eastern Finland

Objective: To characterize, for the first time, the phenotype and clinical course of autosomal dominant polycystic kidney disease (ADPKD) in Finnish patients. Material and Methods: All patients underwent an abdominal sonographic examination and most of those with ADPKD underwent magnetic resonance angiography of the head. Haplotype analysis was used to classify 20 ADPKD families into those with defects in either the polycystic kidney disease type 1 (PKD1) or polycystic kidney disease type 2 (PKD2) genes. Evaluation of the rate of progression of kidney disease in patients with ADPKD was based on creatinine values. Results: Haplotype analysis showed that 16 families had defects in the PKD1 gene and one had defects in the PKD2 gene. Three families were excluded because of uninformative haplotypes. The final study population consisted of 79 unaffected family members, 109 patients with defects in the PKD1 gene and 10 with defects in the PKD2 gene. Higher prevalences of hepatic cysts (3% in healthy relatives, 6...