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Gitelman syndrome and primary hyperparathyroidism: a rare association.
Teresa Rego1, Fernando Fonseca1, Rita Cerqueira2
1Department of Endocrinology, Hospital Curry Cabral, Lisboa, Portugal.
BMJ Case Reports
|June 7, 2018
Summary
Gitelman syndrome, a rare salt-losing tubulopathy, typically presents with low potassium and magnesium. This case highlights an unusual co-occurrence of hypercalcaemia due to primary hyperparathyroidism in a patient with Gitelman syndrome.
Area of Science:
- Nephrology
- Endocrinology
- Genetics
Background:
- Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy.
- GS is characterized by hypokalemia, hypomagnesemia, hypocalciuria, and secondary hyperaldosteronism.
- Hypercalcemia is an extremely rare manifestation in GS patients.
Observation:
- A 25-year-old woman presented with symptoms of hypokalemia, including fatigue, myalgias, and cramps.
- Laboratory findings revealed hypokalemia, hypomagnesemia, and hypercalcemia.
- The patient was diagnosed with Gitelman syndrome and treated with spironolactone and electrolyte supplementation.
Findings:
- Further investigation identified primary hyperparathyroidism caused by a parathyroid adenoma as the cause of hypercalcemia.
- Serum calcium normalized after parathyroidectomy.
- This case presents a rare instance of hypercalcemia in a patient with Gitelman syndrome.
Implications:
- Hypomagnesemia in GS usually protects against hypercalcemia.
- Careful correction of hypomagnesemia is crucial in GS patients.
- Prompt diagnosis and management of underlying causes of hypercalcemia, such as primary hyperparathyroidism, are essential in patients with electrolyte imbalances.
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