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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Detalles Bibliográficos
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
Descripción
Sumario: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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