Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother

Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the calcium channel transporter. TNHP is defined as an impairment of calcium transportation from the mother to the fetus prenatally and mainly in the third trimester. TNHP classically presents with skeletal deformities...

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Autores principales: Almidani, Eyad, Elsidawi, Weam, Almohamedi, Abdulaziz, Bin Ahmed, Ibrahim, Alfadhel, Abdulrahman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077087/
https://www.ncbi.nlm.nih.gov/pubmed/32206464
http://dx.doi.org/10.7759/cureus.7000
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author Almidani, Eyad
Elsidawi, Weam
Almohamedi, Abdulaziz
Bin Ahmed, Ibrahim
Alfadhel, Abdulrahman
author_facet Almidani, Eyad
Elsidawi, Weam
Almohamedi, Abdulaziz
Bin Ahmed, Ibrahim
Alfadhel, Abdulrahman
author_sort Almidani, Eyad
collection PubMed
description Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the calcium channel transporter. TNHP is defined as an impairment of calcium transportation from the mother to the fetus prenatally and mainly in the third trimester. TNHP classically presents with skeletal deformities and subsequently affects multiple systems. TNHP has been linked to a mutation in the transient receptor potential cation channel, subfamily V, member 6 ​(​TRPV6). We report a case of a full-term male infant diagnosed with TNHP prenatally from a medically free mother. The patient was discharged home at the age of 28 days after an excellent response to the trial of calcium infusion.
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spelling pubmed-70770872020-03-23 Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother Almidani, Eyad Elsidawi, Weam Almohamedi, Abdulaziz Bin Ahmed, Ibrahim Alfadhel, Abdulrahman Cureus Endocrinology/Diabetes/Metabolism Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the calcium channel transporter. TNHP is defined as an impairment of calcium transportation from the mother to the fetus prenatally and mainly in the third trimester. TNHP classically presents with skeletal deformities and subsequently affects multiple systems. TNHP has been linked to a mutation in the transient receptor potential cation channel, subfamily V, member 6 ​(​TRPV6). We report a case of a full-term male infant diagnosed with TNHP prenatally from a medically free mother. The patient was discharged home at the age of 28 days after an excellent response to the trial of calcium infusion. Cureus 2020-02-15 /pmc/articles/PMC7077087/ /pubmed/32206464 http://dx.doi.org/10.7759/cureus.7000 Text en Copyright © 2020, Almidani et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Almidani, Eyad
Elsidawi, Weam
Almohamedi, Abdulaziz
Bin Ahmed, Ibrahim
Alfadhel, Abdulrahman
Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title_full Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title_fullStr Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title_full_unstemmed Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title_short Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother
title_sort case report of transient neonatal hyperparathyroidism: medically free mother
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077087/
https://www.ncbi.nlm.nih.gov/pubmed/32206464
http://dx.doi.org/10.7759/cureus.7000
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