Familial hypocalciuric hypercalcemia screening: Difference between revisions
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==Overview== | ==Overview== | ||
There is insufficient evidence to recommend routine screening for familial hypocalciuric hypercalcemia (FHH). | There is insufficient evidence to recommend routine [[screening]] for [[familial hypocalciuric hypercalcemia]] (FHH). | ||
==Screening== | ==Screening== | ||
* Prenatal testing for FHH is not recommended routinely. | * [[Prenatal testing]] for [[FHH]] is not recommended routinely. | ||
* If both parents have type-1 FHH, their children should be screened for CASR mutation. | * 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. | * [[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. | * 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.<ref name="pmid21697018">{{cite journal |vauthors=Fernández López I, Fernández Peña I, Cózar León MV, Viloria Peñas MM, Martínez De Pinillos Gordillo G, Fernández-Ladreda MT, Duran García S |title=[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation] |language=Spanish; Castilian |journal=Endocrinol Nutr |volume=58 |issue=7 |pages=325–30 |year=2011 |pmid=21697018 |doi=10.1016/j.endonu.2011.04.004 |url=}}</ref><ref name="urlFHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium.">{{cite web |url=http://www.parathyroid.com/FHH.htm |title=FHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium. |format= |work= |accessdate=}}</ref> | * 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.<ref name="pmid21697018">{{cite journal |vauthors=Fernández López I, Fernández Peña I, Cózar León MV, Viloria Peñas MM, Martínez De Pinillos Gordillo G, Fernández-Ladreda MT, Duran García S |title=[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation] |language=Spanish; Castilian |journal=Endocrinol Nutr |volume=58 |issue=7 |pages=325–30 |year=2011 |pmid=21697018 |doi=10.1016/j.endonu.2011.04.004 |url=}}</ref><ref name="urlFHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium.">{{cite web |url=http://www.parathyroid.com/FHH.htm |title=FHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium. |format= |work= |accessdate=}}</ref> | ||
==References== | ==References== | ||
Revision as of 15:22, 2 October 2017
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Familial hypocalciuric hypercalcemia Microchapters |
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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Familial hypocalciuric hypercalcemia screening On the Web |
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Risk calculators and risk factors for Familial hypocalciuric hypercalcemia screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]
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][2]
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.
- ↑ "FHH and Diagnosing FHH. Familial Hypocalciuric Hypercalcemia (FHH); Low Urine Calcium".