一个成人发病的巴特特综合征病例,伴有过渡性
Shahzaib Siddiqui1, Shayan Ali Irfan2, Shahrukh Ahmed2
1Internal Medicine, Jinnah Sindh Medical University, Rafiqui H.J, Iqbal Shaheed Rd, Karachi Cantonment, Karachi 75510, Pakistan.
这项研究呈现了一个罕见的成人开始巴特特综合征病例,呈现为过渡性. 早期诊断和治疗对于这种罕见的遗传性管性脏疾病至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 遗传学 遗传学 是一个
- 内部医学 内部医学
背景情况:
- 巴特特综合征是一种罕见的遗传性管性脏疾病.
- 它的特点是代谢性,超代谢和盐的浪费.
- 通常影响产前和新生儿群体,成人病例很少见.
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