Clinical Implications of DNA Analysis on ADPKD

Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.

80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.

Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.

Inclusion Criteria:

• The unrelated patients with ADPKD.

Exclusion Criteria:

• The patients whose clinical data are not compiled.