Novel medical approach of polycystic kidney disease by the next generation sequencer

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15467
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Kidney internal medicine
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: SOHARA Eisei 東京医科歯科大学, 大学院医歯学総合研究科, 准教授 (90510355)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 多発性嚢胞腎 / 次世代シークエンサー / 網羅的遺伝子解析

Outline of Final Research Achievements

Distinguishing autosomal‐dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture‐based next‐generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease‐causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD.The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.

Free Research Field

腎臓内科学