| Project/Area Number |
14570728
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
IGARASHI Takashi The University of Tokyo, Faculty of Medicine, Professor, 医学部附属病院, 教授 (70151256)
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| Co-Investigator(Kenkyū-buntansha) |
SEKINE Takashi The University of Tokyo, Faculty of Medicine, Lecturer, 医学部附属病院, 講師 (50255402)
稲富 淳 東京大学, 医学部附属病院, 助手
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2003: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 2002: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Keywords | Bartter's syndrome / NKCC2 / CLCNKB / A diagnosis criteria / Gitelman症候群 / 低K血症 / 低Mg血症 / ALC12A3 |
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| Research Abstract |
Bartter's syndrome comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of four genes that code for renal transporters and channels as responsible for Bartter's syndrome has resulted in new insights into renal salt handling diuretic action and blood-pressure regulation. We have identified three homozygous mutations (2311 A deletion, T485S, R881C) in NKCC2 gene which codes thiazide-sensitive Na-Cl cotransporter and in three homozygous mutations (65 base deletion, Q29X, A 799V) in CLCNKB gene which codes chloride channel Kb.
We clarified that patients who manifest hypomagnesaemia, hypokalemia and alkalemia have CLCNKB gene mutations. We also made new diagnosis criteria for Banter's syndrome, which will be useful for the diagnosis of heterogeneous Bartter's syndrome.
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