Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in t...

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Autores principales: Wu, Yingying, Zhang, Chao, Huang, Xiaojun, Cao, Li, Liu, Shihua, Zhong, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280832/
https://www.ncbi.nlm.nih.gov/pubmed/35818129
http://dx.doi.org/10.1177/03000605221110489
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author Wu, Yingying
Zhang, Chao
Huang, Xiaojun
Cao, Li
Liu, Shihua
Zhong, Ping
author_facet Wu, Yingying
Zhang, Chao
Huang, Xiaojun
Cao, Li
Liu, Shihua
Zhong, Ping
author_sort Wu, Yingying
collection PubMed
description Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in the calcium-sensing receptor gene (CASR) which affect PTH secretion from the parathyroid gland and calcium resorption in the kidney. Here, we describe a case who presented with symptoms of recurrent seizure caused by hypocalcemia with a novel CASR variant. We comprehensively analyzed the phenotypic features of this presentation and reviewed the current literature to better understand clinical manifestations and the genetic spectrum.
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spelling pubmed-92808322022-07-15 Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review Wu, Yingying Zhang, Chao Huang, Xiaojun Cao, Li Liu, Shihua Zhong, Ping J Int Med Res Case Reports Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in the calcium-sensing receptor gene (CASR) which affect PTH secretion from the parathyroid gland and calcium resorption in the kidney. Here, we describe a case who presented with symptoms of recurrent seizure caused by hypocalcemia with a novel CASR variant. We comprehensively analyzed the phenotypic features of this presentation and reviewed the current literature to better understand clinical manifestations and the genetic spectrum. SAGE Publications 2022-07-11 /pmc/articles/PMC9280832/ /pubmed/35818129 http://dx.doi.org/10.1177/03000605221110489 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Reports
Wu, Yingying
Zhang, Chao
Huang, Xiaojun
Cao, Li
Liu, Shihua
Zhong, Ping
Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title_full Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title_fullStr Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title_full_unstemmed Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title_short Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
title_sort autosomal dominant hypocalcemia with a novel casr mutation: a case study and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280832/
https://www.ncbi.nlm.nih.gov/pubmed/35818129
http://dx.doi.org/10.1177/03000605221110489
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