Service d'Endocrinologie Pédiatrique, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Université Paris-Sud 11, Hôpital Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, Paris, France.
J Clin Endocrinol Metab. 2011 Nov;96(11):3308-12. doi: 10.1210/jc.2011-1359. Epub 2011 Aug 24.
Hypoparathyroidism in children is most often due to mutations in genes involved in parathyroid development and calcium homeostasis signaling. Some rare cases result from autoimmune attack on the parathyroid glands as a part of the type 1 polyglandular failure syndrome (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy). The majority of cases of pediatric hypoparathyroidism are well controlled under conventional treatment with calcium and vitamin D analogs. However, this treatment may be difficult to manage, especially in two situations: 1) in the context of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and 2) activating mutations in the calcium-sensing receptor. We successfully treated three patients with hypoparathyroidism with continuous subcutaneous administration of rhPTH(1-34) (recombinant human PTH(1-34)), two of which were refractory to conventional therapy.
儿童甲状旁腺功能减退症最常见的原因是甲状旁腺发育和钙稳态信号转导相关基因的突变。一些罕见的病例是由于甲状旁腺自身免疫攻击作为 1 型多腺体功能衰竭综合征（自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良）的一部分。大多数儿童甲状旁腺功能减退症的病例在常规的钙和维生素 D 类似物治疗下可以得到很好的控制。然而，这种治疗可能难以管理，特别是在以下两种情况下：1）在自身免疫性多腺体功能衰竭综合征-念珠菌病-外胚层营养不良的情况下；2）钙敏感受体的激活突变。我们成功地用重组人 PTH(1-34)（rhPTH(1-34)）对 3 名甲状旁腺功能减退症患者进行了皮下持续给药治疗，其中 2 名患者对常规治疗有抵抗。
