CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Type 1 Bartter Syndrome Presenting as Primary Diabetes Insipidus: a rare case report with 8-year follow-up
Provisionally accepted
- 1The Second Affiliated Hospital of Zhejiang University School of Medicine Linping Campus, Hangzhou, China
- 2Huashan Hospital Fudan University, Shanghai, China
- 3The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou, China
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Type 1 Bartter syndrome (BS), a rare autosomal recessive salt-losing tubulopathy, classically presents with hyponatremia, hypochloremia, hypokalemic alkalosis, and hyperreninemic hyperaldosteronism. We report a male patient with the atypical presentation of hypernatremia-hyperchloremia, initially misdiagnosed as nephrogenic diabetes insipidus (NDI). Born preterm with antenatal polyhydramnios, he exhibited persistent hypokalemia, polydipsia, and polyuria despite potassium Lu Page 2 [Insert Running title of <72 characters] supplementation. Seizures developed at age 9. Genetic testing revealed compound heterozygous SLC12A1 mutations, confirming type 1 BS, while excluding primary NDI (both AVPR2/AQP2 variants were negative). Indomethacin normalized electrolytes and resolved polyuria. Nonadherence to follow-up protocols was observed, including the patient's unsupervised cessation of indomethacin therapy by the patient at age 14 years. Subsequently, following this unsupervised treatment cessation, he developed focal segmental glomerulosclerosis (FSGS) with renal insufficiency by age 17, alongside intracranial calcifications. This case underscores the fact that hypernatremia-hyperchloremia in BS presenting as secondary inherited nephrogenic diabetes insipidus (siNDI) may mimic primary NDI, and refractory hypokalemia should prompt evaluation for BS. Long-term BS monitoring is critical, given the potential for secondary complications such as FSGS and renal insufficiency, particularly in the context of treatment nonadherence.
Keywords: Bartter Syndrome, Nephrogenic diabetes insipidus, SLC12A1 gene, focal segmental glomerulosclerosis, Renal insufciency
Received: 24 Jul 2025; Accepted: 19 Nov 2025.
Copyright: © 2025 Lu, Liu, Sun and Mou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lijun Mou, moulj511@zju.edu.cn
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