Gitelman's syndrome associated with chondrocalcinosis: a case report

Area of Science:

• Genetics
• Endocrinology
• Nephrology

Background:

• Gitelman syndrome (GS) is a rare autosomal recessive disorder.
• It is characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and hyperreninemic hyperaldosteronism.

Observation:

• A 57-year-old male presented with hypokalemia.
• The patient was asymptomatic, highlighting the potential for GS to be undiagnosed until later in life.

Findings:

• Clinical and laboratory assessments confirmed a diagnosis of Gitelman syndrome.
• Treatment involved potassium and magnesium replacement therapy.

Implications:

• Gitelman syndrome, though often benign, carries risks of severe complications like paralysis and cardiac arrest.
• This case underscores the importance of recognizing GS, even in asymptomatic individuals, for timely intervention and management.