Cargando…

Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome

Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) s...

Descripción completa

Detalles Bibliográficos
Autores principales: Dayal, Devi, Panigrahi, Inusha, Varma, Tandra Harish, Gupta, Saniya, Gupta, Atul, Kumar, Rakesh, Sachdeva, Naresh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227483/
https://www.ncbi.nlm.nih.gov/pubmed/33191722
http://dx.doi.org/10.5114/pedm.2020.100402
_version_ 1785050782549147648
author Dayal, Devi
Panigrahi, Inusha
Varma, Tandra Harish
Gupta, Saniya
Gupta, Atul
Kumar, Rakesh
Sachdeva, Naresh
author_facet Dayal, Devi
Panigrahi, Inusha
Varma, Tandra Harish
Gupta, Saniya
Gupta, Atul
Kumar, Rakesh
Sachdeva, Naresh
author_sort Dayal, Devi
collection PubMed
description Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) syndrome, HRD (hypoparathyroidism, retardation, and dysmorphism) syndrome, Kenny-Caffey syndrome etc. may have associated HPT. In the present communication, we describe, the hitherto unreported, occurrence of HPT in a child with partial Jacobsen syndrome. Chromosomal Microarray analysis showed a heterozygous deletion of 4.7 Mb at cytoband 11q24.3q25 encompassing approximately 20 genes including JAM3 and NTM genes. The child was treated with recombinant human parathyroid hormone (rhPTH1-34) for 10 years. Throughout follow up, he required several adjustments in dosages of rhPTH1-34 and oral calcium to maintain serum calcium concentrations in low normal ranges. The bone turnover markers remained normal and oral calcium supplements were completely taken off after 8 years. In conclusion, our single-case experience indicates that long-term therapy of chronic HPT with rhPTH1-34 is safe and reduces the need for additional therapies.
format Online
Article
Text
id pubmed-10227483
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Termedia Publishing House
record_format MEDLINE/PubMed
spelling pubmed-102274832023-06-05 Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome Dayal, Devi Panigrahi, Inusha Varma, Tandra Harish Gupta, Saniya Gupta, Atul Kumar, Rakesh Sachdeva, Naresh Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) syndrome, HRD (hypoparathyroidism, retardation, and dysmorphism) syndrome, Kenny-Caffey syndrome etc. may have associated HPT. In the present communication, we describe, the hitherto unreported, occurrence of HPT in a child with partial Jacobsen syndrome. Chromosomal Microarray analysis showed a heterozygous deletion of 4.7 Mb at cytoband 11q24.3q25 encompassing approximately 20 genes including JAM3 and NTM genes. The child was treated with recombinant human parathyroid hormone (rhPTH1-34) for 10 years. Throughout follow up, he required several adjustments in dosages of rhPTH1-34 and oral calcium to maintain serum calcium concentrations in low normal ranges. The bone turnover markers remained normal and oral calcium supplements were completely taken off after 8 years. In conclusion, our single-case experience indicates that long-term therapy of chronic HPT with rhPTH1-34 is safe and reduces the need for additional therapies. Termedia Publishing House 2020-11-04 2021-03 /pmc/articles/PMC10227483/ /pubmed/33191722 http://dx.doi.org/10.5114/pedm.2020.100402 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works.
spellingShingle Case report | Opis przypadku
Dayal, Devi
Panigrahi, Inusha
Varma, Tandra Harish
Gupta, Saniya
Gupta, Atul
Kumar, Rakesh
Sachdeva, Naresh
Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title_full Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title_fullStr Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title_full_unstemmed Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title_short Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
title_sort ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial jacobsen syndrome
topic Case report | Opis przypadku
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227483/
https://www.ncbi.nlm.nih.gov/pubmed/33191722
http://dx.doi.org/10.5114/pedm.2020.100402
work_keys_str_mv AT dayaldevi tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT panigrahiinusha tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT varmatandraharish tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT guptasaniya tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT guptaatul tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT kumarrakesh tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome
AT sachdevanaresh tenyearuseofrecombinantparathyroidhormoneforthetreatmentofhypoparathyroidisminaboywithpartialjacobsensyndrome