Hypoparathyroidism screening: Difference between revisions
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*However, a significant number of patients of isolated idiopathic hypoparathyroidism with [[hypercalciuria]] may have a de novo [[calcium-sensing receptor]] (CASR) [[gene mutation]].<ref name="pmid26764418">{{cite journal |vauthors=Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN |title=Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study |journal=Eur. J. Endocrinol. |volume=174 |issue=4 |pages=K1–K11 |year=2016 |pmid=26764418 |doi=10.1530/EJE-15-1216 |url=}}</ref> | *However, a significant number of patients of isolated idiopathic hypoparathyroidism with [[hypercalciuria]] may have a de novo [[calcium-sensing receptor]] (CASR) [[gene mutation]].<ref name="pmid26764418">{{cite journal |vauthors=Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN |title=Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study |journal=Eur. J. Endocrinol. |volume=174 |issue=4 |pages=K1–K11 |year=2016 |pmid=26764418 |doi=10.1530/EJE-15-1216 |url=}}</ref> | ||
*All patients require treatment with [[vitamin D3]] supplementation for correction of [[hypocalcemia]]. | *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. | *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 [[Calcium-sensing receptor|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.<ref name="pmid11701698">{{cite journal |vauthors=Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabédian M |title=Activating mutations of the calcium-sensing receptor: management of hypocalcemia |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue=11 |pages=5313–23 |year=2001 |pmid=11701698 |doi=10.1210/jcem.86.11.8016 |url=}}</ref> | *Molecular screening of [[Calcium-sensing receptor|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.<ref name="pmid11701698">{{cite journal |vauthors=Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabédian M |title=Activating mutations of the calcium-sensing receptor: management of hypocalcemia |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue=11 |pages=5313–23 |year=2001 |pmid=11701698 |doi=10.1210/jcem.86.11.8016 |url=}}</ref> | ||
Revision as of 18:42, 12 October 2017
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Hypoparathyroidism Microchapters |
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Hypoparathyroidism screening On the Web |
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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.