Authors : Dr. Shaik Khadeer Ahamed; Shravani Vanga; Sreeteja Panjala; Chandraprakash Gollapelli; Dr. Rama Rao Tadikonda

Volume/Issue : Volume 10 - 2025, Issue 6 - June

Google Scholar : https://tinyurl.com/36jzan7j

DOI : https://doi.org/10.38124/ijisrt/25jun1094

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.

Abstract : Bartter syndrome, a rare inherited renal tubular disorder characterized by impaired salt reabsorption in the loop of Henle’s thick ascending limb. This causes hypokalemia, metabolic alkalosis, and normal to low blood pressure by causing an excessive loss of sodium, potassium, and chloride through the urine. The condition is genetically heterogeneous, with at least five subtypes linked to mutations in genes encoding ion transporters and channels such as NKCC2, ROMK, ClC-Kb, and the calcium-sensing receptor. The goals of Management focus on correcting electrolyte imbalances, minimizing renal damage, and improving growth and development. This is A case of an 8-month-old female child, presented with acute dehydration, lethargy, vomiting, and diarrhea. She had prior NICU and hospital admissions for neonatal abdominal distension and bronchiolitis with failure to thrive. Laboratory workup revealed metabolic alkalosis with hypokalemia, hyponatremia, and hypochloremia, along with high urinary electrolyte losses. Genetic testing confirmed Bartter syndrome type III. Management included potassium and magnesium supplementation (oral and IV), electrolyte monitoring, and supportive care such as IVF DNS, oral rehydration salts, zinc, and vitamin D. After electrolyte correction, serum potassium improved, though cholelithiasis was incidentally detected, for which ursodeoxycholic acid was prescribed. The patient remains on regular follow-up with ongoing electrolyte monitoring and potassium chloride therapy.

Keywords : Classic Bartter Syndrome, Metabolic Alkalosis, Hypokalemia, Growth Retardation, Failure to Thrive.

References :

1. Cunha TDS, Heilberg IP. Bartter syndrome: causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis. 2018 Nov 9;11:291-301. Doi: 10.2147/IJNRD.S155397.
2.  Kömhoff M, Laghmani K. Pathophysiology of antenatal Bartter’s syndrome. Curr Opin Nephrol Hypertens. 2017 Sep;26(5):419-425. Doi: 10.1097/MNH.0000000000000346.
3.  Han Y, Lin Y, Sun Q, Wang S, Gao Y, Shao L. Mutation spectrum of Chinese patients with Bartter syndrome. Oncotarget. 2017 Sep 27;8(60):101614-101622. Doi: 10.18632/oncotarget.21355.
4. Bartter FC. Bartter's syndrome. Urologic Clinics of North America. 1977 Jun 1;4(2):253-61.
5.  Qasba RK, Bucharles ACF, Piccoli MVF, Sharma P, Banga A, Kamaraj B, Nawaz FA, Kumar HJ, Happy MA, Qasba RK, Kogilathota Jagirdhar GS, Essar MY, Garg P, Reddy ST, Rama K, Surani S, Kashyap R. Bartter Syndrome: A Systematic Review of Case Reports and Case Series. Medicina (Kaunas). 2023 Sep 11;59(9):1638. Doi: 10.3390/medicina59091638.
6. Mrad FCC, Soares SBM, de Menezes Silva LAW, Dos Anjos Menezes PV, Simões-E-Silva AC. Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach. World J Pediatr. 2021 Feb;17(1):31-39. Doi: 10.1007/s12519-020-00370-4. Epub 2020 Jun 1.
7. Bokhari SRA, Zulfiqar H, Mansur A. Bartter Syndrome. [Updated 2023 Sep 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK442019
8. Leclercq F, Leclercq B. Hypokalemic Metabolic Alkalosis. [Updated 2023 Jun 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK545258
9. Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. doi: 10.1038/ncpneph0689.
10.  Zulfiqar H, Bokhari SRA, Mansur A. Bartter Syndrome. [Updated 2023 Sep 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK442019
11. Al Shibli A, Narchi H. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. World J Methodol. 2015 Jun 26;5(2):55-61. doi: 10.5662/wjm.v5.i2.55.