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Autosomal Dominant Hypocalcemia With Hypercalciuria Due to a Calcium-Sensing Receptor Gain-of-Function Mutation: A
Tasneim Makki1, Anwar Al-Omairi2, Saif Al Yaarubi3
1Pediatric Nephrology, Sultan Qaboos University Hospital, Muscat, OMN.
Cureus
|July 22, 2026
Summary
Autosomal dominant hypocalcemia with hypercalciuria (ADHH) is a rare genetic disorder. Early genetic testing and targeted therapy with hydrochlorothiazide are crucial for managing this condition and preventing kidney complications.
Area of Science:
- Genetics
- Endocrinology
- Nephrology
Background:
- Autosomal dominant hypocalcemia with hypercalciuria (ADHH) is a rare genetic disorder.
- Caused by gain-of-function mutations in the calcium-sensing receptor (CaSR) gene.
- Characterized by hypocalcemia, suppressed parathyroid hormone (PTH), and renal hypercalciuria.
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