Clinical characteristics and genetic analysis of familial hypocalciuric hypercalcemia type 1
10.3760/cma.j.cn311282-20210317-00174
- VernacularTitle:一例家族性低尿钙性高钙血症1型的临床特点及分子遗传学研究
- Author:
Yanling LIU
1
;
Jin XUN
;
Zhimin WANG
;
Huijuan WANG
;
Yanyan ZHAO
;
Guijun QIN
;
Yanxia LIU
Author Information
1. 郑州大学第一附属医院内分泌科 450052
- Keywords:
Familial hypocalciuric hypercalcemia;
Calcium-sensing receptor gene;
Gene mutation;
Pancreatitis
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(2):161-164
- CountryChina
- Language:Chinese
-
Abstract:
A case of familial hypocalciuric hypercalcemia type 1 (FHH1) was reported detailing the course of diagnosis and treatment. The main clinical manifestations of the patient were recurrent pancreatitis with moderate hypercalcemia and low urinary calcium. The C→T heterozygous missense mutation at nucleotide 2 393 with conversion of codon Pro798 to Leu (p.P155L) in CaSR gene was identified. Serum calcium and parathyroid hormone levels of the patient were decreased significantly after treatment with cinacalcet.
