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Updated: Apr 26, 2026
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report
Ahmed H Alhammadi1, Mohamed Khalifa1, Lolwa Alnaimi1
1Department of Pediatrics, Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Insights
Bartter syndrome, a kidney chloride transport disorder, can cause severe electrolyte issues and failure to thrive in infants. Early diagnosis and treatment are crucial to prevent potential kidney failure.
Area of Science:
- Nephrology
- Pediatric Endocrinology
- Medical Genetics
Background:
- Bartter syndrome is a group of autosomal recessive disorders affecting chloride transport in the thick loop of Henle.
- It presents in infancy with polyuria, dehydration, electrolyte disturbances, and failure to thrive.
- Genetic defects lead to distinct molecular pathophysiology, impacting renal function.
Observation:
- A case of an 8-week-old infant presenting with electrolyte imbalance and failure to thrive is detailed.
- Laboratory findings included hypochloremic metabolic alkalosis and severe hypokalemia.
- The infant exhibited symptoms consistent with Bartter syndrome, including normal blood pressure with elevated renin and aldosterone.
Findings:
- Bartter syndrome is characterized by renal chloride transport defects.
- Key clinical features include polyuria, dehydration, hypokalemia, and metabolic alkalosis.
- Elevated serum renin and aldosterone levels in the presence of normal blood pressure are indicative.
Implications:
- Early identification and management of Bartter syndrome are vital for improving patient outcomes.
- Prompt treatment, including medications like indomethacin and spironolactone, alongside fluid and electrolyte replacement, can mitigate progression to renal failure.
- Molecular genetics testing is essential for pinpointing the specific genetic defect and guiding personalized treatment strategies.
Abstract:
Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport in the thick loop of Henle, with different genetic origins and molecular pathophysiology. Children with Bartter syndrome generally present in early infancy with persistent polyuria and associated dehydration, electrolyte imbalance, and failure to thrive. Although early diagnosis and appropriate treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. We report a case of an 8-week-old infant who was admitted for electrolyte imbalance and failure to thrive. Laboratory studies revealed hypochloremic metabolic alkalosis with severe hypokalemia. Health care providers should consider Bartter syndrome when excessive chloride losses appear to be renal in origin and the patient has normal blood pressure and high levels of serum renin and aldosterone. Treatments, including indomethacin, spironolactone, and aggressive fluid and electrolyte replacement, may prevent renal failure in children with Bartter syndrome. Molecular genetics studies are indicated to identify the primary genetic defect.
