CASR基因新发变异致新生儿重症甲状旁腺功能亢进症1例报告

doi:10.12372/jcp.2022.21e1090

Abstract

Abstract:

To improve the understanding of neonatal severe hyperparathyroidism (NSHPT). The clinical data, gene test result, treatment and prognosis of a child with NSHPT were retrospectively analyzed. A 14-day-old female infant presented with hyperbilirubinemia, poor feeding, lethargy, hypotonia, severe hypercalcemia and hyperparathyroidism 4 days after birth. She was found to carry novel compound heterozygous mutations of c.888C > A (p. Ser296Arg) (from father) and c.1576G > T (p. Glu526Ter) (from mother) in the CASR gene. The infant received multiple-dose intravenous zoledronate. After the drug treatment, symptoms improved including sucking, reaction and muscle tension. Serum calcium decreased obviously at first, but increased again after one week. Unilateral parathyroidectomy was performed 54 days after birth. Postoperative serum calcium reduced and the patient was discharged 64 days after birth. At 17 months of follow-up, the patient showed delayed growth and neurodevelopmental retardation. NSHPT is caused by an inactivation variation of the CASR gene and is characterized by severe hypercalcemia and hyperparathyroidism with growth retardation. Total parathyroidectomy is the first choice of treatment, bisphosphonates may have a certain effect.

Key words: neonate, hyperparathyroidism, CASR gene, hypercalcemia

WANG Yingcan, TAN Jintong, CHEN Yan, HUANG Qi, XIA Hongping. Neonatal severe hyperparathyroidism caused by novel variation in CASR gene: a case report[J].Journal of Clinical Pediatrics, 2022, 40(6): 442-445.

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时间	事件
4日龄	出现首发症状：吸吮无力、精神反应差
14~21、26~54日龄	鲑降钙素 3 IU/kg 皮下注射 q12h
15、30、37、44日龄	唑来磷酸 0.025 mg/kg 静脉滴注
43日龄	明确诊断,基因检测结果：患儿CASR基因存在c.888C>A (p.Ser296Arg)和c.1576G>T (p.Glu526Ter)复合杂合变异,其父携带c.888C > A杂合变异,其母携带c.1576G > T杂合变异
54日龄	左侧甲状旁腺切除术
64日龄	出院：血钙和PTH有所下降,但仍偏高,患儿生命体征平稳,吸吮、反应及肌张力好转
3月龄	家长自行停止一切药物治疗
17月龄	当地医院随访：身高70 cm（P₃）,体质量7.5 kg（P₃）,头围46 cm（P₅₀）,肌张力偏低,可独坐,不能扶站,不会叫爸爸妈妈

Neonatal severe hyperparathyroidism caused by novel variation in CASR gene: a case report

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