Pseudo-Bartter syndrome in children with cystic fibrosis
1Faculty of Medicine, Department of Pediatrics Lorestan University of Medical Sciences Khorramabad Iran.
Clinical Case Reports
|June 12, 2019
Insights
Cystic fibrosis (CF), a genetic disorder, can present with electrolyte imbalances mimicking pseudo-Bartter syndrome in children. Early diagnosis and comprehensive treatment, including antibiotics and enzyme therapy, are crucial for managing CF complications.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Cystic fibrosis (CF) is an autosomal recessive genetic disorder affecting multiple organ systems.
- CF can lead to various complications, including electrolyte disturbances.
- Pseudo-Bartter syndrome is a rare condition characterized by hypokalemia and metabolic alkalosis.
Observation:
- A 4.5-year-old boy with cystic fibrosis presented with underweight, hypocalcemia, metabolic alkalosis, hypokalemia, and hyponatremia.
- Clinical presentation suggested an electrolyte imbalance mimicking pseudo-Bartter syndrome.
- Sweat analysis confirmed cystic fibrosis in the patient.
Findings:
- The patient's symptoms were attributed to cystic fibrosis-related electrolyte abnormalities.
- Pseudo-Bartter syndrome was diagnosed based on the observed clinical and biochemical profile.
- Successful management was achieved through a multi-faceted treatment approach.
Implications:
- This case highlights the importance of considering CF in children presenting with unexplained electrolyte disorders.
- Early recognition and management of CF complications are vital for improving patient outcomes.
- Comprehensive treatment strategies, including supportive care and targeted therapies, are effective in managing pseudo-Bartter syndrome in CF patients.
Abstract:
Cystic fibrosis (CF) is an autosomal recessive genetic disorder. We report a case of a boy aged 4.5 years with cystic fibrosis, presenting under-weightness, hypocalcemia, metabolic alkalosis, hypokalemia, and hyponatremia. Sweat analysis of the patients concluded pseudo-Bartter syndrome, which was successfully treated using antibiotics, physiotherapy, fluids, vitamin supplements, and pancreatic enzyme therapy.
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