新生儿甲状旁腺功能减退症20例临床分析

Clinical analysis on 20 cases with neonatal hypoparathyroidism

目的探讨新生儿甲状旁腺功能减退症(简称甲旁减)的临床特征及治疗。方法回顾性分析本院2004年5月至2010年5月收治的新生儿甲旁减患儿的临床资料。结果 20例患儿中男12例,女8例;发病日龄2～28 d。母亲甲状旁腺功能亢进5例,糖尿病母亲婴儿6例,新生儿缺氧缺血性脑病4例。主要表现为惊厥20例,肢体抖动18例,面色发绀6例,水肿6例,转移性钙化4例。血钙降低20例,血磷增高14例,甲状旁腺素(PTH)降低10例,正常5例,轻度增高5例。经钙剂和维生素D及其衍生物治疗,18例临床症状消失带药出院,2例放弃治疗。13例患儿自生后1个月至3年于内分泌门诊随访,生长发育正常;3例不明原因死亡;4例失访。结论新生儿期甲旁减少见,以暂时性多见。遇难治性低钙血症应检查血钙、磷、PTH水平,需注意母亲隐匿性甲状旁腺功能亢进。钙剂和维生素D及衍生物治疗有效,治疗中应注意预防高钙血症。

Objective To analyze the clinical characteristics and treatment of hypoparathyroidism in newborns. Methods The clinical data of 20 cases with neonatal hypoparathyroidism in our hospital from May, 2004 to May, 2010 were collected and analyzed retrospectively. Results The patients consisted of 12 males and 8 females, whose age of onset ranged from 2 to 28 days. Hyperparathyroidism were found in 5 mothers, 6 infants of diabetic mothers, HIE in 4 cases. The predominant manifestations were seizures （20 cases） , limbs tremor （ 18 cases） , cyanosis （6 cases）, edema （6 cases） and metastatic calcification （4 cases）. The laboratory findings showed hypocalcaemia （20 cases ） and hyperphosphatemia （14 cases ）. Serum intact parathyroid hormone （PTH） were drawn in 10 cases, normal in 5 cases and mild increased in 5 cases. Twenty patients were treated with calcium supplement and vitamin D or its metabolites, 18 cases were discharged with clinical improvement. 2 cases gave up treatment after diagnosis. Four cases failed to be followed-up, 3 patients died, 13 cases were followed up from 1 month to 3 years after birth with a favorite outcome. Conclusion Hypoparathyroidism is rarely occurred in newborns, most of which are transient. The infants with refractory hypocalcemic seizures should be examined for their serum calcium, phosphate and PTH so as to avoid misdiagnosis. Unrecognized maternal primary hyperparathyroidism should be alert. Calcium supplement combined with vitamin D or its metabolites is an effective therapy. Hypercalcaemia should be monitored during the treatment.