To make a diagnosis criteria for Bartter's syndrome

制定巴特综合征的诊断标准

• 批准号: 14570728
• 负责人: IGARASHI Takashi
• 金额: $ 2.18万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14570728/
• 关键词: Bartter's syndrome; NKCC2; CLCNKB; A diagnosis criteria; Gitelman症候群; 低K血症; 低Mg血症; ALC12A3

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.

巴特综合征包括一组异质性常染色体隐性失盐肾病。编码肾脏转运蛋白和通道的四种基因与巴特综合征有关，这四个基因的鉴定使人们对肾脏盐处理利尿作用和血压调节有了新的认识。我们在编码噻嗪类敏感性 Na-Cl 协同转运蛋白的 NKCC2 基因中发现了 3 个纯合突变（2311 A 缺失、T485S、R881C），在编码氯离子通道 Kb 的 CLCNKB 基因中发现了 3 个纯合突变（65 碱基缺失、Q29X、A 799V）。 低镁血症、低钾血症和碱血症有CLCNKB基因突变。我们还制定了新的Banter综合征诊断标准，这将有助于异质性Bartter综合征的诊断。

项目成果

Jouret F, et al.: "Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5."Kidney Int. 65・1. 198-208 (2004)

Jouret F 等人：“肾氯离子通道的比较个体发育、加工和分段分布，ClC-5” 198-208（2004 年）。

五十嵐隆: "外来診療のすべて"MEDICAL VIEW社 高久史麿総監修. 1039 (2003)

五十岚隆：《关于门诊治疗的一切》MEDICAL VIEW Co., Ltd. 监督：Fumimaro Takahisa 1039 (2003)。

Sugatani J, Komiyama N, Mochizuki T, Hoshino M, Miyamoto D, Igarashi T, Hoshi S, Miwa M: "Urinary concentraring defect in rats given Shiga toxin : Elevation in urinary AQP2 level associated with polyuria."Life Science. 71. 171-189 (2002)

Sugatani J、Komiyama N、Mochizuki T、Hoshino M、Miyamoto D、Igarashi T、Hoshi S、Miwa M：“给予志贺毒素的大鼠的尿液浓缩缺陷：与多尿相关的尿液 AQP2 水平升高。”生命科学。

Satoh H, et al.: "Localization of Na^+/HCO3^- cotransporter (pNBC-1) variants in rat and human pancreas."Am J Physiol Cell Physiol. 284・1. C729-C737 (2003)

Satoh H 等人：“Na^+/HCO3^- 协同转运蛋白 (pNBC-1) 变异在大鼠和人胰腺中的定位”。Am J Physiol Cell Physiol. 284·1。

Ozawa H, et al.: "Renal function in patients with Menkes disease."Eur J Pediatr. 162・6. 51-52 (2003)

Ozawa H 等：“门克斯病患者的肾功能”。Eur J Pediatr. 162・6 (2003)。