Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited...

Area of Science:

• Pediatric Nephrology
• Genetics
• Internal Medicine

Background:

• Gitelman syndrome (GS) is a rare inherited renal salt-wasting tubulopathy.
• It is characterized by hypokalemia, hypomagnesemia, and hypocalciuria.
• Nonspecific symptoms often delay diagnosis, especially in resource-limited settings.

Purpose of the Study:

• To report a case of Gitelman syndrome in an 11-year-old boy.
• To highlight diagnostic challenges and management strategies.
• To emphasize the importance of considering GS in pediatric patients with unexplained electrolyte disturbances.

Main Methods:

• Case report of an 11-year-old boy with progressive weight loss, polyuria, polydipsia, and salt craving.
• Evaluation for various conditions including diabetes mellitus, endocrine disorders, infections, and malnutrition.
• Diagnosis of GS supported by clinical presentation and biochemical findings consistent with renal salt wasting, in the absence of genetic testing.

Main Results:

• The patient experienced recurrent severe hypokalemia and hypomagnesemia, leading to muscle weakness.
• Initial evaluations did not yield a definitive diagnosis.
• Management included fluid correction, electrolyte supplementation, salt intake, and nutritional support, resulting in clinical improvement and biochemical stabilization.

Conclusions:

• Gitelman syndrome diagnosis should be suspected in children with polyuria, polydipsia, salt craving, and electrolyte abnormalities.
• Prompt recognition and management are vital for patient outcomes.
• This case underscores the diagnostic challenges and successful management of GS in a resource-limited context.