title: Long-term results of continuous subcutaneous recombinant PTH (1-34) infusion in children with refractory hypoparathyroidism.
abstract: 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.
authors.affiliation: 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. agnes.linglart@inserm.fr
authors.forename: Agnès
authors.initials: A
authors.lastname: Linglart
authors.forename: Anya
authors.initials: A
authors.lastname: Rothenbuhler
authors.forename: Iva
authors.initials: I
authors.lastname: Gueorgieva
authors.forename: Philippe
authors.initials: P
authors.lastname: Lucchini
authors.forename: Caroline
authors.initials: C
authors.lastname: Silve
authors.forename: Pierre
authors.initials: P
authors.lastname: Bougnères
mesh_terms: D000293:Adolescent; D002648:Child; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D055104:Infusions, Subcutaneous; D008297:Male; D010281:Parathyroid Hormone / Q000008:administration & dosage / Q000627:therapeutic use*; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000235:genetics*; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use*; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome; D000096927:AIRE Protein
chemical_list: D010281:Parathyroid Hormone; D011994:Recombinant Proteins; D014157:Transcription Factors; D000096927:AIRE Protein