先天性吸收不良性腹泻
Enteric anendocrinosis
ORPHA:83620疾病
定义 英文原文（暂无中文）
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.
别名
肠内分泌细胞缺乏所致先天性吸收不良性腹泻
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NEUROG3 | neurogenin 3 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 9
极常见 99–80%5
- 脱水 HP:0001944
- 腹泻 HP:0002014
- 高氯性代谢性酸中毒 HP:0004918
- 吸收不良 HP:0002024
- 呕吐 HP:0002013
常见 79–30%4
- 细胞表型异常 HP:0025354
- 胆汁淤积性肝病 HP:0002611
- 门脉高压 HP:0001409
- 1型糖尿病 HP:0100651
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）