Key laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Clin Endocrinol (Oxf). 2017 Dec;87(6):865-873. doi: 10.1111/cen.13453. Epub 2017 Sep 13.
Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. Our study aimed to summarize the clinical characteristics and the molecular genetics in patients with paediatric PHPT in China.
Retrospective observational study.
A total of 59 paediatric PHPT patients (onset age <18 years) admitted to Peking Union Medical College Hospital from 1975 to 2015 were retrospectively identified. A group of 118 adult PHPT patients who presented during the same period were selected for comparing clinical characteristics between the two groups. Germline mutation analyses of the MEN1, CDC73, RET, CDKN1B and CaSR genes were performed in 24 patients.
Only one paediatric patient (1.7%) with PHPT was asymptomatic. Bone involvement, urolithiasis, acute pancreatitis and hypercalcaemic crisis were present in 86.4%, 39.0%, 6.8% and 10.2% of cases, respectively. Paediatric PHPT presented more commonly with rickets/osteomalacia compared to adult PHPT. Fifty-seven paediatric patients underwent surgery. Adenoma, hyperplasia, atypical adenoma and carcinoma occurred in 80.7%, 10.5%, 7.0% and 1.8% of cases, respectively. Of the 24 paediatric patients screened for genetic mutations, two patients were found to carry MEN1 mutations and six were found to carry CDC73 mutations. The mutation rate was 22.2% (4/18) in sporadic patients.
Unlike adults with PHPT, most paediatric PHPT were symptomatic. Rickets/osteomalacia was more common in paediatric patients than in their adult counterparts. Paediatric PHPT patients can be treated successfully with surgical intervention. Genetic screening of the MEN1 and CDC73 genes for mutations should be recommended in paediatric patients due to a relatively high mutation rate.
儿童原发性甲状旁腺功能亢进症（PHPT）被认为极为罕见。本研究旨在总结中国儿童 PHPT 患者的临床特征和分子遗传学特征。
回顾性观察性研究。
回顾性分析 1975 年至 2015 年期间北京协和医院收治的 59 例发病年龄<18 岁的儿童 PHPT 患者。选择同期就诊的 118 例成人 PHPT 患者作为对照组，比较两组患者的临床特征。对 24 例患者进行 MEN1、CDC73、RET、CDKN1B 和 CaSR 基因突变分析。
仅有 1 例（1.7%）儿童 PHPT 患者无症状。86.4%、39.0%、6.8%和 10.2%的患者分别有骨骼受累、尿路结石、急性胰腺炎和高钙血症危象。与成人 PHPT 相比，儿童 PHPT 更常表现为佝偻病/骨软化症。57 例患儿接受了手术。腺瘤、增生、不典型腺瘤和癌分别占 80.7%、10.5%、7.0%和 1.8%。在筛查基因突变的 24 例患儿中，2 例携带 MEN1 突变，6 例携带 CDC73 突变。散发性患者的突变率为 22.2%（4/18）。
与成人 PHPT 不同，大多数儿童 PHPT 为症状性。与成人相比，儿童 PHPT 更常见佝偻病/骨软化症。手术干预可使儿童 PHPT 患者获得成功治疗。由于突变率相对较高，建议对儿童患者进行 MEN1 和 CDC73 基因突变筛查。
