新生儿重症甲状旁腺功能亢进症是一种罕见的危及生命的疾病,在新生儿期表现为严重的高钙血症、甲状旁腺功能亢进和骨质减少。患儿,女,14日龄,生后4天起病,表现为高胆红素血症、纳差、反应差、肌张力低下,严重的高钙血症和甲状旁腺功能亢进。基因检测显示,CASR基因存在未报道过的c.888C > A (p.Ser296Arg)（来源于父亲）、c.1576G > T (p.Glu526Ter)（来源于母亲）复合杂合变异。患儿经多次唑来膦酸静脉滴注,吸吮力、反应及肌张力有好转,血钙开始明显下降但一周后又升高。生后54天患儿行一侧甲状旁腺切除术,血钙有所下降,于生后64天出院。生后17月随访,患儿体格和神经发育迟缓。NSHPT由CASR基因失活变异引起,表现为严重的高钙血症和甲状旁腺功能亢进,伴生长发育迟缓。甲状旁腺全切除术是首选治疗手段,双膦酸盐可能具有一定的疗效。

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.