Monfort-Gouraud M, Lanza M, Meyer A, Roussel M, Badoual J
Service de Pédiatrie de l'Hôpital de Dourdan, Paris.
Arch Fr Pediatr. 1993 Apr;50(4):335-7.
Familial hypocalciuric hypercalcemia is a rare disease with autosomal dominant transmission. Its basic defect is unknown and it requires no treatment.
A 4 month-old girl was admitted for unexplained crying. She was found to have hypercalcemia (2.8 mmol/l) and later values of blood calcium were 3, 3.1 and 3 mmol/l. The serum free ionic calcium level was also elevated. The serum concentrations of protein, phosphorus, magnesium and the alkaline phosphatase activity were all normal. Serum concentrations of 25-(OH)-D3, 1.25-(OH)-2-D3 and PTH were also normal. The urinary calcium/creatinine ratio was normal and the urinary calcium excretion was 1.08 mg/kg/d. Screening of family members showed hypercalcemia in the father (2.8 mmol/l) and a brother aged 7 years (2.9 mmol/l). Short-term treatment with disodium etidronate lowered the serum calcium level to normal, but hypercalcemia reappeared once the treatment was discontinued.
This asymptomatic familial hypercalcemia has the characteristics of familial hypocalciuric hypercalcemia. There was no associated endocrine disorder. Screening of family members is worthwhile.
家族性低钙血症性高钙血症是一种罕见的常染色体显性遗传病。其基本缺陷尚不清楚，无需治疗。
一名4个月大的女孩因不明原因哭闹入院。发现她患有高钙血症（2.8毫摩尔/升），随后血钙值分别为3、3.1和3毫摩尔/升。血清游离离子钙水平也升高。血清蛋白、磷、镁浓度及碱性磷酸酶活性均正常。血清25-（OH）-D3、1,25-（OH）2-D3及甲状旁腺激素水平也正常。尿钙/肌酐比值正常，尿钙排泄量为1.08毫克/千克/天。对家庭成员进行筛查发现，父亲（2.8毫摩尔/升）和一名7岁的兄弟（2.9毫摩尔/升）患有高钙血症。依替膦酸二钠短期治疗可使血钙水平降至正常，但治疗停止后高钙血症再次出现。
这种无症状的家族性高钙血症具有家族性低钙血症性高钙血症的特征。无相关内分泌紊乱。对家庭成员进行筛查是值得的。
