Familial hypocalciuric hypercalcemia screening: Difference between revisions
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==Overview== | ==Overview== | ||
There is insufficient evidence to recommend routine screening for FHH. | There is insufficient evidence to recommend routine screening for familial hypocalciuric hypercalcemia (FHH). | ||
==Screening== | ==Screening== | ||
Revision as of 20:31, 21 September 2017
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Familial hypocalciuric hypercalcemia Microchapters |
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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
There is insufficient evidence to recommend routine screening for familial hypocalciuric hypercalcemia (FHH).
Screening
- Prenatal testing for FHH is not recommended routinely.
- If both parents have type-1 FHH, their children should be screened for CASR mutation.
- Genetic screening for the CASR familial mutation is also offered to family members of affected individuals.
- CaSR and AP2S1 sequencing are done in patients with familial hyperparathyroidism and phenotype suggesting FHH.
- Learning disabilities in patients, associated with higher serum calcium and magnesium levels may suggest the presence of an AP2S1 mutation and may require further genetic evaluation.[1].
References
- ↑ Fernández López I, Fernández Peña I, Cózar León MV, Viloria Peñas MM, Martínez De Pinillos Gordillo G, Fernández-Ladreda MT, Duran García S (2011). "[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation]". Endocrinol Nutr (in Spanish; Castilian). 58 (7): 325–30. doi:10.1016/j.endonu.2011.04.004. PMID 21697018.