Genetic and clinical analyses of hereditary renal tubular disorders

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09682
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: Miura Kenichiro 東京女子医科大学, 医学部, 講師 (70408483)
• Co-Investigator(Kenkyū-buntansha): 張田 豊 東京大学, 医学部附属病院, 講師 (10451866) ; 関根 孝司 東邦大学, 医学部, 教授 (50255402)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 遺伝性尿細管機能異常症 / 遺伝子解析 / 尿細管性蛋白尿 / 尿細管性アシドーシス

Outline of Final Research Achievements

Genetic analyses of 11 families with Dent disease and 6 families with Lowe syndrome identified pathogenic mutations in the CLCN5 and the OCRL genes in a similar proportion of patients compared with previous reports. In addition, genetic analyses in 3 families with intermediate phenotypes of Dent disease and Lowe syndrome suggested that there is a phenotypic continuum within patients with Dent disease and Lowe syndrome who carry OCRL mutations. Genetic and clinical analyses were also performed in 21 families with distal renal tubular acidosis (dRTA). Age at onset in all the patients with mutations in the ATP6V1B1 gene (9.5%) and the ATP6V0A4 gene (24%) was in infancy, while the median age at onset of patients with mutations in the SLC4A1 gene was 2.5 years. At last follow ups, chronic kidney disease stages 2-4 were noted in 41% of the patients, which warrants long-term monitoring of renal function in patients with dRTA.

Free Research Field

小児腎臓病学