Gitelman syndrome with primary hyperparathyroidism: A case report

Area of Science:

• Nephrology
• Endocrinology
• Genetics

Background:

• Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy.
• GS is typically characterized by the absence of hypercalcemia.
• This study focuses on a unique case of GS presenting with hypercalcemia.

Observation:

• A middle-aged female patient with a 12-year history of hypokalemia and hypomagnesemia was diagnosed with GS.
• The patient also exhibited hypercalcemia and elevated parathyroid hormone levels.
• Parathyroid ultrasound indicated hyperplasia consistent with primary hyperparathyroidism (PHPT).

Findings:

• Genetic sequencing confirmed a homozygous mutation in SLC12A3, confirming the GS diagnosis.
• The patient was diagnosed with both Gitelman syndrome and primary hyperparathyroidism.
• Treatment with potassium and magnesium supplements improved serum levels and relieved symptoms.

Implications:

• Hypercalcemia in Gitelman syndrome patients warrants consideration of primary hyperparathyroidism.
• Primary hyperparathyroidism can complicate the management of hypomagnesemia in GS by increasing urinary magnesium excretion.
• This case underscores the importance of comprehensive diagnosis and management in complex electrolyte disorders.