[Bartter's syndrome: two case reports in childhood]

Area of Science:

• Pediatrics
• Nephrology
• Genetics

Background:

• Bartter syndrome is an uncommon tubular disease in childhood.
• It can present with failure to thrive and electrolyte disturbances, mimicking other common pediatric conditions.
• The neonatal form is rare and poses diagnostic challenges due to severe hydro-electrolytic imbalances.

Purpose of the Study:

• To highlight Bartter syndrome as a differential diagnosis for failure to thrive in children.
• To report on the clinical presentation and management of two pediatric cases.
• To increase pediatrician awareness of this uncommon tubular disorder.

Main Methods:

• Case report of two pediatric patients presenting with failure to thrive and electrolyte abnormalities.
• Diagnostic investigations included assessment of electrolyte levels, acid-base balance, and urinary calcium excretion.
• Treatment involved potassium correction, indomethacin, and spironolactone.

Main Results:

• Both patients exhibited failure to thrive, hypochloremic alkalosis, hypokalemia, and hypercalciuria.
• One patient had a history of polyhydramnios, associated with the neonatal form of Bartter syndrome.
• Treatment was well-tolerated, leading to improved growth and corrected electrolyte disturbances.

Conclusions:

• Bartter syndrome should be considered in the differential diagnosis of pediatric failure to thrive.
• Prompt diagnosis and early treatment are crucial for improving outcomes and growth in affected children.
• The management approach, including medication, is effective and well-tolerated even in young children.