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KMID : 0356620060210060583
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Journal of Korean Society of Endocrinology
2006 Volume.21 No. 6 p.583 ~ p.588
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A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Low Bone Mass
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전성완
김세화/정종열/서원나/문지애/육종인/정윤석/이유미/이은직/임승길
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Abstract
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Familial hypocalciuric hypercalcemia is caused by heterozygous loss-of-function mutation of the calcium sensing receptor gene, and this is characterized by mild, persistently elevated levels of serum calcium without symptoms or complications. We present a case of clinically diagnosed familial hypocalciuric hypercalcemia with unexpected low bone mass. A 19-year-old man presented with incidentally discovered hypercalcemia. He showed normal growth and sexual maturation. Biochemical studies showed hypercalcemia, increased parathyroid hormone, hypocalciuria, a decreased urinary calcium-creatinine ratio and decreased serum 25-hydroxy-vitamin D. The other hormonal studies were normal. Dual energy x-ray absorptiometry showed low bone mineral density, and the Sestamibi scan showed no abnormality in the parathyroid glands. Iliac bone biopsy showed a general decrease in bone density and increased porosity of the cortical bone. Normal mineralization was also shown, but in part, osteoid deposition was also found. Direct sequencing of the patient's calcium sensing receptor gene showed a point mutation at exon7, Q926R.
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KEYWORD
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Calcium sensing receptor, Hypercalcemia, Hypocalciuria, Vitamin D deficiency
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