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골감소를 보이는 가족성 저칼슘뇨성 고칼슘혈증 1예

Other Titles
 A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Low Bone Mass 
 전성완  ;  김세화  ;  정종열  ;  서원나  ;  문지애  ;  육종인  ;  정윤석  ;  이유미  ;  이은직  ;  임승길 
 Journal of Korea Society of Endocrinology (대한내분비학회지), Vol.21(6) : 583-588, 2006 
Journal Title
Journal of Korea Society of Endocrinology(대한내분비학회지)
Issue Date
Calcium sensing receptor ; Hypercalcemia, ; Hypocalciuria ; Vitamin D deficiency
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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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Pathology (구강병리학교실) > 1. Journal Papers
Yonsei Authors
Moon, Ji Ae(문지애)
Yook, Jong In(육종인) ORCID logo https://orcid.org/0000-0002-7318-6112
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lee, Eun Jig(이은직) ORCID logo https://orcid.org/0000-0002-9876-8370
Lim, Sung Kil(임승길)
Chun, Sung Wan(전성완)
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