Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

Endocrinology, Diabetes & Metabolism Case Reports

article

Katsumi Taki¹  Takahiko Kogai²  Junko Sakumoto²  Takashi Namatame³  Akira Hishinuma² 

[1] Department of Internal Medicine, Fujiyoshida Municipal Medical Center;Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University;Clinical Research Center, Dokkyo Medical University

关键词: Adult;    Female;    Asian - Japanese;    Parathyroid;    Bone/calcium;    Familial hypocalciuric hypercalcemia;    CASR gene mutation;    Hypercalcemia;    Hypocalciuria;    Calcium (serum);    phosphate (serum);    calcium (urine);    radionuclide imaging;    sestamibi scan;    genetic analysis;    PTH;    Genetics;    Unique/unexpected symptoms or presentations of a disease;    May;    2015;   

DOI  :  10.1530/EDM-15-0016

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatalhyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case ofasymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation in CASR, S591C, which is primarilyreported to be responsible for NHPT. A 54-year-old female was referred for investigation of asymptomatic hypercalcemia thatwas initially found in the 1980s but without a history of bone disease during the perinatal period. She had moderatehypercalcemia (12.4 mg/dl) and relative hypocalciuria (fractional extraction of calcium 1.07%) but normal intact parathyroidhormone and serum 1,25-dihydroxyvitamin D3. Pedigree analysis revealed that she carried a de novo heterozygous mutationof S591C, which she transmitted to an affected child with moderate hypercalcemia but not to other children, who had normalserum calcium levels. A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individualswith asymptomatic hypocalciuric hypercalcemia. Caution is required when predicting course and outcome in a pedigree withCASR mutation, as well as incidental hypercalcemia, because of its variable phenotypes.

【 授权许可】

CC BY-NC-ND