Novel Gain of Function Mutations of the Calcium-sensing Receptor in Two Patients with PTH-deficient Hypocalcemia
Novel Gain of Function Mutations of the Calcium-sensing Receptor in Two Patients with PTH-deficient Hypocalcemia
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DOI：
10.2169/internalmedicine.48.2459
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发表时间：
2009-01-01
影响因子：
1.2
通讯作者：
Sato, Kanji
中科院分区：
文献类型：
--
作者：
Nakajima, Kishiko;Yamazaki, Kazuko;Sato, Kanji
在 15 名 PTH 缺乏性特发性低钙血症患者中，我们发现钙敏感受体 (CaSR) 中有两种新的错义突变。患者 1 出生后出现严重低钙血症 (5.0 mg/dL) 和癫痫发作，其跨膜结构域 (A844P) 存在杂合从头错义突变。患者目前正在接受最小剂量的 1 α-OHD3（0.5 微克/天），以将血清钙水平维持在 6 毫克/分升，从而预防癫痫发作。 2 号患者患有无症状低钙血症 (7.5 mg/dL)，并且胞外域 (E228G) 存在杂合错义突变。这些发现表明，应在特发性低钙血症患者中进行 CaSR 基因分析，特别是当其发生在新生儿期时。
Among 15 patients with PTH-deficient idiopathic hypocalcemia, we found two novel missense mutations in the calcium-sensing receptor (CaSR). Patient 1, who developed severe hypocalcemia (5.0 mg/dL) and seizures after birth, had a heterozygous de novo missense mutation in the transmembrane domain (A844P). The patient is currently receiving a minimum dose of 1 alpha-OHD3 (0.5 mu g/day) to maintain the serum calcium level at 6 mg/dL and thus prevent seizures. Patient 2 had asymptomatic hypocalcemia (7.5 mg/dL) and also had a heterozygous missense mutation in the extracellular domain (E228G). These findings suggest that gene analysis of CaSR should be performed in patients with idiopathic hypocalcemia, particularly when it occurs in the neonatal period.