Elamin Wael F, de Buyl Olivier
Bantry General Hospital, Bantry, Co, Cork, Ireland.
J Med Case Rep. 2010 Oct 29;4:349. doi: 10.1186/1752-1947-4-349.
Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families.
We describe an Irish family with hypercalcemia and hypocalciuria. The proband, an 80-year-old Irish woman, presented with hypercalcemia, relative hypocalciuria, and an elevated parathormone level. She also had chronic kidney disease stage 3 and vitamin D deficiency. Two of her sons were also found to be hypercalcemic and hypocalciuric. DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons.
Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.
家族性低钙血症性高钙血症是一种罕见的常染色体显性疾病，其特征是由于钙敏感受体基因突变导致无症状且非进行性高钙血症。钙代谢紊乱在老年人中非常常见，在受影响的家庭中，它们可能与家族性低钙血症性高钙血症共存。
我们描述了一个患有高钙血症和低钙尿症的爱尔兰家庭。先证者是一名80岁的爱尔兰女性，表现为高钙血症、相对低钙尿症和甲状旁腺激素水平升高。她还患有3期慢性肾病和维生素D缺乏症。她的两个儿子也被发现患有高钙血症和低钙尿症。DNA测序在该先证者及其两个患有高钙血症的儿子的钙敏感受体基因中发现了一个新的错义失活突变。
在该先证者及其两个儿子中诊断出由于钙敏感受体基因的新突变导致的家族性低钙血症性高钙血症。老年人的钙代谢紊乱可能多种多样。我们建议对一级亲属进行钙水平检测和DNA测序，这可能在评估与甲状旁腺激素相关的高钙血症的老年患者中发挥作用。
