Hypoparathyroidism screening
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Hypoparathyroidism Microchapters |
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Diagnosis |
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Hypoparathyroidism screening On the Web |
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American Roentgen Ray Society Images of Hypoparathyroidism screening |
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Risk calculators and risk factors for Hypoparathyroidism screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
There is insufficient evidence to recommend routine screening for hypoparathyroidism. However, a significant number of patients of isolated idiopathic hypoparathyroidism with hypercalciuria may have a de novo calcium-sensing receptor (CASR) gene mutation. Molecular screening of CASR gene in patients with isolated idiopathic hypoparathyroidism with hypercalciuria is recommended during initial work-up as it has potentially important clinical relevance to the patient’s prognosis.
Screening
- There is insufficient evidence to recommend routine screening for hypoparathyroidism.
- However, a significant number of patients of isolated idiopathic hypoparathyroidism with hypercalciuria may have a de novo calcium-sensing receptor (CASR) gene mutation.[1]
- All patients require treatment with vitamin D3 supplementation for correction of hypocalcemia.
- As vitamin D3 supplementation may precipitate prolonged episode of hypercalciuria, the treatment decision should be evaluated on an individual basis in asymptomatic or mildly symptomatic patients.
- Molecular screening of CASR gene in patients with isolated idiopathic hypoparathyroidism with hypercalciuria is recommended during initial work-up as it has potentially important clinical relevance to the patient’s prognosis.[2]
References
- ↑ Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN (2016). "Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study". Eur. J. Endocrinol. 174 (4): K1–K11. doi:10.1530/EJE-15-1216. PMID 26764418.
- ↑ Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabédian M (2001). "Activating mutations of the calcium-sensing receptor: management of hypocalcemia". J. Clin. Endocrinol. Metab. 86 (11): 5313–23. doi:10.1210/jcem.86.11.8016. PMID 11701698.