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Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

儿童原发性甲状旁腺功能亢进症的特征和分子遗传学表现。

  • 影响因子:5.04
  • DOI:10.1530/EJE-20-1119
  • 作者列表:"El Allali Y","Hermetet C","Bacchetta J","Amouroux C","Rothenbuhler A","Porquet-Bordes V","Champigny MA","Baron S","Barat P","Bony-Trifunovic H","Bourdet K","Busiah K","Cartigny-Maciejewski M","Compain F","Coutant R","Amsellem-Jager J","De Kerdanet M","Magontier N","Mignot B","Richard O","Rossignol S","Soskin S","Berot A","Naud-Saudreau C","Salles JP","Linglart A","Edouard T","Lienhardt-Roussie A
  • 发表时间:2021-02-01
Abstract

Aim:To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population. Methods:Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018. Results:Compared to older children, infants were often asymptomatic (54% vs 15%, P = 0.002) with a milder form of PHPT. When symptomatic, children and adolescents mostly presented with non-specific complaints such as asthenia, depression, weight loss, vomiting or abdominal pain. A genetic cause of PHPT was identified in about half of this cohort (52%). The infancy period was almost exclusively associated with mutation in genes involved in the calcium-sensing receptor (CaSR) signalling pathway (i.e. CaSR and AP2S1 genes, 'CaSR group'; 94% of infants with mutations) whereas childhood and adolescence were associated with mutation in genes involved in parathyroid cell proliferation (i.e. MEN1, CDC73, CDKN1B and RET genes, 'cell proliferation group'; 69% of children and adolescents with mutations). Although serum calcium levels did not differ between the two groups (P = 0.785), serum PTH levels and the urinary calcium/creatinine ratio were significantly higher in 'cell proliferation group' patients compared to those in the 'CaSR group' (P = 0.001 and 0.028, respectively). Conclusion:Although far less common than in adults, PHPT can develop in children and is associated with significant morbidity. Consequently, this diagnosis should be considered in children with non-specific complaints and lead to monitoring of mineral homeostasis parameters. A genetic cause of PHPT can be identified in about half of these patients.

摘要

目的: 描述儿童原发性甲状旁腺功能亢进症 (PHPT) 的表现特征和分子遗传学。 方法: 对1998-2018年确诊为原发性PHPT的63例患儿进行回顾性研究。 结果: 与年龄较大的儿童相比,婴儿通常无症状 (54% vs 15%,P = 0.002),具有较轻形式的PHPT。当有症状时,儿童和青少年大多出现非特异性主诉,如虚弱、抑郁、体重减轻、呕吐或腹痛。在该队列的约一半 (52%) 中鉴定了PHPT的遗传原因。婴儿期几乎完全与参与钙敏感受体 (CaSR) 信号通路 (即CaSR和AP2S1基因,'CaSR组'; 94% 的婴儿有突变),而儿童期和青春期与涉及甲状旁腺细胞增殖的基因突变 (即MEN1、CDC73、CDKN1B和RET基因,'细胞增殖组'; 69% 的儿童和青少年有突变)。虽然两组之间的血清钙水平没有差异 (P = 0.785),但与 “casr组” 相比,“细胞增殖组” 患者的血清PTH水平和尿钙/肌酸酐比率显著更高 (分别为P = 0.001和0.028)。 结论: 尽管PHPT在儿童中的发病率远低于成人,但其在儿童中的发病率很高。因此,在患有非特异性主诉的儿童中应该考虑这种诊断,并导致矿物质稳态参数的监测。在这些患者中约一半可鉴定PHPT的遗传原因。

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