Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
ORPHA:620371疾病暂无中文名
定义 英文原文（暂无中文）
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfuntion may not be evident in the patients.
别名
Gitelman-like kidney tubulopathy due to mtDNA mutation
基本事实
- 遗传方式
- 线粒体遗传
- 发病年龄
- 各年龄段
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MT-TI | mitochondrially encoded tRNA-Ile (AUU/C) | Disease-causing germline mutation(s) in |
| MT-TF | mitochondrially encoded tRNA-Phe (UUU/C) | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）