Clinical and genetic analysis of children with calcium-sensing receptor signaling pathway related hypercalcemia
10.3760/cma.j.cn112150-20231225-00489
- VernacularTitle:钙敏感受体信号通路相关高钙血症患儿的临床及遗传学分析
- Author:
Hui YIN
1
;
Yi LIU
;
Fuying SONG
;
Qian DONG
;
Xiaobo CHEN
Author Information
1. 首都儿科研究所附属儿童医院内分泌科，北京100020
- Keywords:
Hypercalcemia;
Calcium-sensing receptor;
Adaptor-related protein complex 2, sigma 1 subunit;
Familial hypocalciuric hypercalcemia
- From:
Chinese Journal of Preventive Medicine
2024;58(4):526-531
- CountryChina
- Language:Chinese
-
Abstract:
To analyze the clinical characteristics and follow-up data of Chinese patients with calcium-sensing receptor (CaSR) signaling pathway related hypercalcemia. A retrospective analysis was conducted on six children with hypercalcemia admitted to Department of Endocrinology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to November 2022. Summarized the clinical and pathogenic variants, as well as follow-up data. The results showed that 3 were female and 3 were male of the 6 cases, aged from 2 months to 8 years at the consultation. The clinical symptoms varied from asymptomatic hypercalcemia to vomiting, dehydration, and growth retardation,as well as epilepsy and intellectual disability. Except for 1 case, which showed a significant increase in blood calcium (4.63 mmol/L), the blood calcium of other cases ranged from 2.98 to 3.17 mmol/L. Among the 6 patients, 5 had elevated parathyroid hormone, and 1 was normal. Three cases showed a significant decrease in 24-hour urinary calcium to creatinine ratio. Whole exome sequencing revealed that one patient had compound heterozygous variants and four had a heterozygous variants of CaSR gene, one patient had a heterozygous variant of AP2S1 gene. 1 case underwent total parathyroidectomy, followed by calcium supplementation, 3 cases received salmon calcitonin treatment, and 2 cases accepted low calcium diet, blood calcium levels were all controlled well. In conclusion, CaSR signaling pathway related hypercalcemia is rare. Gene detection is essential for children with hypercalcemia. Familial hypocalcemia hypercalcemia (FHH) can be effectively treated with salmon calcitonin.
