摘要
目的探讨儿童假性甲状旁腺功能减退症(pseudohypoparathyroidism,PHP)的临床特征及治疗,提高临床医生对该病的认识。方法回顾性分析该院2008年1月至2018年11月间收治的14例临床诊断PHP患儿的临床资料、实验室检查及影像学检查。将发病年龄小于1岁的分为A组,大于等于1岁的分为B组,分析不同年龄段患儿生化及激素指标的差异。结果14例PHP患儿中男孩10例,女孩4例。发病年龄在1日龄~16岁之间,中位数年龄12岁。14例患儿中绝大多数以频繁惊厥为主诉入院,生化检查均显示血钙降低(1.06~2.18 mmol/L)、血磷增高(2.1~3.5 mmol/L)和甲状旁腺素明显升高(105.6~733.0 pg/ml)。A组患儿(5例)的甲状旁腺素水平明显低于B组(9例),差异有统计学意义(Z=2.07,P=0.042)。5例患儿头颅CT提示对称性基底节钙化,并合并脑实质钙化。所有患儿均予以静推葡萄糖酸钙控制抽搐症状,钙剂、维生素D、阿法骨化三醇口服治疗后好转。结论对于反复惊厥发作及头颅CT提示颅内钙化者,应及时行血钙、血磷、血清甲状旁腺激素测定以协助明确诊断。钙剂和维生素D及衍生物对假性甲状旁腺功能减退症治疗有效。
ObjectiveTo analyze the clinical characteristics and treatment of pseudohypoparathyroidism(PHP)in children and to increase clinicians′understanding of this disorder.MethodsFrom January 2008 to November 2018,a total of 14 PHP patients at our hospital were retrospectively analyzed,as regarding the clinical manifestation,laboratory examination and imaging data.The patients were further divided into two groups according to onset age:group A(under 1 year)and group B(over or equal to 1 year).The laboratory findings were compared between the two groups.ResultsOf the 14 patients(10 boys and 4 girls),the median age of onset was 12 years(range:1 day to 16 years).Epilepsy is one of the most common manifestations of PHP.Laboratory findings include hypocalcemia(1.06-2.18mmol/L),hyperphosphatemia(2.1-3.5 mmol/L),and elevated concentrations of PTH(105.6-733.0 pg/ml).PTH levels were significantly lower in the group A than in group B(Z=2.07,P=0.042).Five patients were found to have calcifications in bilateral basal ganglia and cerebral parenchyma by head CT.All the patients were improved after treatment,which included calcium gluconate injection to control tetany,calcium supplement combined with vitamin D and/or calcitriol orally.ConclusionFor children who presented frequent hypocalcemia tetany and calcifications in head CT,serum calcium,phosphorus,PTH levels should be further investigated to make a correct diagnosis.Calcium supplement combined with vitamin D or its metabolites is an effective therapy for PHP children.
作者
陈旭婷
赵冬莹
王丽
钱继红
Chen Xuting;Zhao Dongying;Wang Li;Qian Jihong(Department of Neonatology,Xinhua Hospital,Shanghai 200092,China)
出处
《国际儿科学杂志》
2019年第10期764-768,共5页
International Journal of Pediatrics
