Pradeep Utkarsh, Acharya Sourya, Kasat Paschyanti R, Gupta Aman, Nehete Tejas
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Dec 21;16(12):e76157. doi: 10.7759/cureus.76157. eCollection 2024 Dec.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases. Here, we discuss the case of a 52-year-old male patient who presented with complaints of multiple episodes of vomiting and mental obtundation. On further evaluation, he was found to have salt-losing tubulopathy, hypokalemia, and metabolic alkalosis. In the absence of genetic studies, the diagnosis of Bartter syndrome poses a diagnostic challenge in clinical practice.
巴特综合征是一种罕见的遗传性疾病,通常在生命早期出现,由多个编码转运体和通道的基因突变引起,这些转运体和通道负责肾单位中各种离子的重吸收。临床上,表现为呕吐、生长发育迟缓及脱水。获得性巴特综合征的罕见病例与结节病、结核病和自身免疫性疾病有关。在此,我们讨论一例52岁男性患者的病例,该患者主诉多次呕吐和精神迟钝。进一步评估发现,他患有失盐性肾小管病、低钾血症和代谢性碱中毒。在缺乏基因研究的情况下,巴特综合征的诊断在临床实践中构成了诊断挑战。