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A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy
- Source :
- Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
- Publication Year :
- 2021
- Publisher :
- Bioscientifica, 2021.
-
Abstract
- Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the CASR gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1–34), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability.
- Subjects :
- Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Subjects
Details
- Language :
- English
- ISSN :
- 20520573
- Volume :
- 1
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Endocrinology, Diabetes & Metabolism Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.3d72dd8f497c4b3e9acdd9e8bb105b34
- Document Type :
- article
- Full Text :
- https://doi.org/10.1530/EDM-21-0005