CaSR基因变异致常染色体显性遗传低钙血症1型1例并文献复习

doi:10.3969/j.issn.1004-583X.2026.06.012

摘要/Abstract

摘要：

目的提高对常染色体显性遗传低钙血症1型(autosomal dominant hypocalcemia type 1, ADH1)临床表型及基因型的认识。方法回顾分析1例ADH1患儿的临床资料,并复习相关文献。结果女性患儿,19 d,主要表现为间断抽搐2周,伴低钙血症、高磷血症及低甲状旁腺激素,补充钙剂及维生素D效果不佳,家属拒绝使用特立帕肽。全外显子基因测序发现患儿母源性CaSR基因c.649G>T杂合错义变异。结论临床表现为甲状旁腺功能减退时需注意查找潜在病因,基因测序有助于发现ADH1。

关键词: 常染色体显性遗传低钙血症1型, CaSR基因, 甲状旁腺功能减退, 新生儿

Abstract:

Objective To improve understanding of the clinical phenotype and genotype of autosomal dominant hypocalcemia type 1 (ADH1). Methods The clinical data of a 19-day-old female patient with ADH1 were retrospectively analyzed, and the relevant literature was reviewed. Results The female infant presented mainly with intermittent convulsions for 2 weeks, accompanied by hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. Calcium and vitamin D supplementation were ineffective, and the family refused teriparatide. Whole-exome sequencing identified a maternally inherited heterozygous missense variant in the CaSR gene, c.649G>T. Conclusion When hypoparathyroidism is suspected clinically, potential underlying causes should be carefully investigated. Gene sequencing is helpful for identifying ADH1.

Key words: autosomal dominant hypocalcemia type 1, CaSR gene, hypoparathyroidism, neonate

中图分类号:

R591.1

崔清洋, 赵孩孩, 郭灵灵, 尚云. CaSR基因变异致常染色体显性遗传低钙血症1型1例并文献复习[J]. 临床荟萃, 2026, 41(6): 551-555.

Cui Qingyang, Zhao Haihai, Guo Lingling, Shang Yun. Autosomal dominant hypocalcemia type 1 caused by CaSR gene variant: A case report and literature review[J]. Clinical Focus, 2026, 41(6): 551-555.

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链接本文: https://www.lchc.cn/CN/10.3969/j.issn.1004-583X.2026.06.012

https://www.lchc.cn/CN/Y2026/V41/I6/551

图/表 4

参考文献 21

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检查时间	钙(mmol/L)	磷(mmol/L)	镁(mmol/L)	PTH(ng/L)	维生素D(μg/L)	降钙素(ng/L)
2018/11/19	1.38	-	-	12.190	-	-
2018/11/21	1.55	3.35	0.56	-	-	-
2018/11/22	1.54	-	-	-	-	-
2018/11/23	1.57	-	-	-	-	-
2018/11/24	1.53	3.46	0.55	-	-	-
2018/11/26	1.49	-	-	-	-	-
2018/11/28	1.55	-	-	-	24.1	-
2018/12/03	1.63	-	-	-	-	-
2018/12/16	1.65	2.77	0.95	-	-	-
2018/12/22	1.92	3.28	0.70	-	-	-
2018/12/29	1.96	2.62	-	-	-	-
2019/01/24	1.90	-	-	0.300	-	-
2023/09/05	1.58	-	-	-	-	-
2025/12/07	1.53	2.30	0.64	7.017	22.5	<0.50

检查时间	钙(mmol/L)	磷(mmol/L)	镁(mmol/L)	PTH(ng/L)	维生素D(μg/L)	降钙素(ng/L)
2018/11/19	1.38	-	-	12.190	-	-
2018/11/21	1.55	3.35	0.56	-	-	-
2018/11/22	1.54	-	-	-	-	-
2018/11/23	1.57	-	-	-	-	-
2018/11/24	1.53	3.46	0.55	-	-	-
2018/11/26	1.49	-	-	-	-	-
2018/11/28	1.55	-	-	-	24.1	-
2018/12/03	1.63	-	-	-	-	-
2018/12/16	1.65	2.77	0.95	-	-	-
2018/12/22	1.92	3.28	0.70	-	-	-
2018/12/29	1.96	2.62	-	-	-	-
2019/01/24	1.90	-	-	0.300	-	-
2023/09/05	1.58	-	-	-	-	-
2025/12/07	1.53	2.30	0.64	7.017	22.5	<0.50

检查时间	钙(mmol/L)	磷(mmol/L)	镁(mmol/L)	PTH(ng/L)	维生素D(μg/L)	降钙素(ng/L)
2025/10/31	1.72	2.62	0.79	-	-	-
2025/11/01	2.15	2.17	0.74	<2.000	32.2	49.19
2025/11/03	1.66	2.64	0.65	-	-	-
2025/11/10	1.68	3.03	0.87	-	-	-
2025/12/15	1.71	2.94	0.69	-	-	-
2025/12/29	1.66	2.96	0.78	-	-	-
2026/01/22	1.65	2.84	0.77	-	-	-
2026/03/29	1.84	2.59	1.16	-	-	-

检查时间	钙(mmol/L)	磷(mmol/L)	镁(mmol/L)	PTH(ng/L)	维生素D(μg/L)	降钙素(ng/L)
2025/10/31	1.72	2.62	0.79	-	-	-
2025/11/01	2.15	2.17	0.74	<2.000	32.2	49.19
2025/11/03	1.66	2.64	0.65	-	-	-
2025/11/10	1.68	3.03	0.87	-	-	-
2025/12/15	1.71	2.94	0.69	-	-	-
2025/12/29	1.66	2.96	0.78	-	-	-
2026/01/22	1.65	2.84	0.77	-	-	-
2026/03/29	1.84	2.59	1.16	-	-	-

例序	性别	发病年龄	诊断用时	主要症状	血钙 (mmol/L)	血磷 (mmol/L)	PTH(ng/L)	头颅CT或MRI异位钙化及部位
1^[11]	女	1 d	1个月	哭声弱	1.53	2.45	14.8	无异常
2^[11]	男	3 d	10年	抽搐	2	2.49	6.2	双侧皮层及基底节
3^[12]	女	10 d余	1个月	抽搐	1.71	2.72	0.3	未做
4^[13]	女	12 d	5年余	手足搐搦	1.74	3.2	7.76	基底节
5^[14]	男	6 d	1个月	抽搐	1.28	3.21	3.15	未做
6	女	5 d	3周	抽搐	1.72	2.62	<2.0	无异常