The onset mechanisms for inherited salt-losing tubulopathies

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09691
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: Nozu Kandai 神戸大学, 医学研究科, 准教授 (70362796)
• Co-Investigator(Kenkyū-buntansha): 飯島 一誠 神戸大学, 医学研究科, 教授 (00240854) ; 庄野 朱美 関西医科大学, 医学部, 研究員 (10535066)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 塩類喪失性尿細管機能異常症 / バーター症候群 / ギッテルマン症候群

Outline of Final Research Achievements

We established a comprehensive diagnostic system for inherited salt-losing tubulopathies by targeted sequencing. As a result, we have performed genetic diagnosis of approximately 150 cases in three years, and now we have received analysis requests of 5-10 samples monthly. As a result, 1. Established the methodologies for Identification of deep intronic mutations in Gitelman syndrome, and for pathogenicity search of intra-intron mutations, 2. Established the novel methodology for detecting Copy Number Variation and identified HNF1B deletion which was causative variant for pseudo-Bartter syndrome. 3. We clarified the mechanism of the development of pseudo - Barter syndrome in hereditary hypercalcemic hypocalcemia.

Free Research Field

遺伝性腎疾患