摘要
报道1例家族性低尿钙性高钙血症1型(familial hypocalciuric hypercalcemia type 1,FHH1)患者的临床表现、遗传特点及诊治经过。患者反复发作胰腺炎伴中度高钙血症(最高3.22 mmol/L)及低尿钙,钙敏感受体(calcium-sensing receptor,CaSR)基因第2393位核苷酸C杂合突变为T,对应第798位氨基酸由脯氨酸变异为亮氨酸(c.2393C>T,p.P798L)。患者应用西那卡塞治疗后血钙及甲状旁腺激素水平较前显著下降。
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 2393 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.
作者
刘彦玲
荀津
王志敏
王绘娟
赵艳艳
秦贵军
刘艳霞
Liu Yanling;Xun Jin;Wang Zhimin;Wang Huijuan;Zhao Yanyan;Qin Guijun;Liu Yanxia(Department of Endocrine and Metabolic Diseases,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2022年第2期161-164,共4页
Chinese Journal of Endocrinology and Metabolism
基金
国家自然科学基金(81700693)。
关键词
家族性低尿钙性高钙血症
钙敏感受体基因
基因突变
胰腺炎
Familial hypocalciuric hypercalcemia
Calcium-sensing receptor gene
Gene mutation
Pancreatitis
