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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Termedia Publishing House
2020
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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 |
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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 |
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