一例2型常染色体显性低钙血症的儿科病例。
A pediatric case of autosomal dominant hypocalcemia type 2.
作者信息
Takahashi Satoko, Fuchigami Tatsuo, Suzuki Junichi, Morioka Ichiro
机构信息
Department of Pediatrics, IMS Fujimi General Hospital, Fujimi City, Japan.
Department of Pediatrics and Child Health, Nihon University School of Medicine, Itabashi-ku, Japan.
出版信息
J Pediatr Endocrinol Metab. 2023 Aug 16;36(10):974-977. doi: 10.1515/jpem-2023-0097. Print 2023 Oct 26.
OBJECTIVES
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and hyperphosphatemia secondary to hypoparathyroidism. It is classified as type 1, caused by gain-of-function mutations of the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in , which is a crucial mediator of CASR signaling. What is new? We report a rare pediatric case of ADH type 2.
CASE PRESENTATION
The patient was a 15-year-old girl with short stature. Blood tests demonstrated hypocalcemia and hyperphosphatemia without elevated parathyroid hormone levels. Brain computed tomography revealed calcification in the bilateral basal ganglia. Genetic testing revealed the rare mutation, c.1023C>G (p.Phe341Leu). The patient was diagnosed with ADH type 2. She had experienced numbness and tetany in her hands for several years, which improved with alfacalcidol therapy.
CONCLUSIONS
Our patient is the third female and first pediatric reported case of a variant mutation in the gene (ADH type 2), c.1023C>G (p.Phe341Leu).
目的
常染色体显性遗传性低钙血症（ADH）的特征是由于甲状旁腺功能减退继发的低钙血症和高磷血症。它被分为1型，由钙敏感受体（CASR）的功能获得性突变引起；以及2型，由 中的激活突变引起， 是CASR信号传导的关键介质。有何新发现？我们报告了一例罕见的2型ADH儿科病例。
病例介绍
患者为一名身材矮小的15岁女孩。血液检查显示低钙血症和高磷血症，甲状旁腺激素水平未升高。脑部计算机断层扫描显示双侧基底神经节钙化。基因检测发现罕见的 突变，c.1023C>G（p.Phe341Leu）。该患者被诊断为2型ADH。她双手麻木和手足搐搦已有数年，阿法骨化醇治疗后症状改善。
结论
我们的患者是第3例女性且是首例报道的 基因（2型ADH）变异突变c.1023C>G（p.Phe341Leu）的儿科病例。
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