التفاصيل البيبلوغرافية
| العنوان: |
Infantile hypercalcaemia type 1: a vitamin D-mediated, under-recognised cause of hypercalcaemia |
| المؤلفون: |
Ryizan Nizar, Nathan W P Cantley, Jonathan C Y Tang |
| المصدر: |
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2021) |
| بيانات النشر: |
Bioscientifica, 2021. |
| سنة النشر: |
2021 |
| المجموعة: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: |
Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: |
A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH). A homozygous, likely pathogenic, variant in CYP24A1 was found on molecular genetic analysis confirming the diagnosis. Management now focuses on removing excess vitamin D from the metabolic pathway as well as reducing calcium intake to achieve serum-adjusted calcium to the middle of the reference range. If undiagnosed, IIH can cause serious renal complications and metabolic bone disease. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2052-0573 |
| Relation: |
https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0058.xml; https://doaj.org/toc/2052-0573 |
| DOI: |
10.1530/EDM-21-0058 |
| URL الوصول: |
https://doaj.org/article/e86bac48ff1a48c58ab643fb951a655e |
| رقم الانضمام: |
edsdoj.86bac48ff1a48c58ab643fb951a655e |
| قاعدة البيانات: |
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