2003 Fiscal Year Final Research Report Summary
To make a diagnosis criteria for Bartter's syndrome
| 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)
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| Project Period (FY) |
2002 – 2003
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| Keywords | Bartter's syndrome / NKCC2 / CLCNKB / A diagnosis criteria |
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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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[Publications] Norden AGW, Lapsley M, Christensen El, Igarashi T, Matsuyama T, Shiraga H, Kelleher CL, Lee P, Scheinman SJ, Thakker RV, Unwin RJ, Verroust P, Wrong 0, Moestrup S: "Urinary megalin deficiency implicates abnormal tubular endocytic receptor trafficking in the Fanconi syndrome."J Am Soc Nephrol. 13. 125-133 (2002)
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「研究成果報告書概要(欧文)」より
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[Publications] Enomoto A, Kimura H, ChairoungduaA, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H: "Molecular identification of a renal/urate/anion exchanger that regulates blood urate levels."Nature. 417. 447-452 (2002)
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「研究成果報告書概要(欧文)」より
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