Classic Bartter Syndrome with Refractory Hypokalemia: A Pediatric Case Report

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.

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Publication Details

Published
2025-06-24
DOI
https://doi.org/10.38124/ijisrt/25jun1094
Primary Topic
Ion Transport and Channel Regulation
Type
article
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article

Classic Bartter Syndrome with Refractory Hypokalemia: A Pediatric Case Report

Shravani Vanga, Sreeteja Panjala, Shaik Khadeer Ahamed, Rama Rao Tadikonda et al.
Ion Transport and Channel Regulation
article

Classic Bartter Syndrome with Refractory Hypokalemia: A Pediatric Case Report

Shravani Vanga, Sreeteja Panjala, Shaik Khadeer Ahamed, Rama Rao Tadikonda, Chandraprakash Gollapelli
article en

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.

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Ion Transport and Channel Regulation
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