Familial hypocalciuric hypercalcemia screening: Difference between revisions
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{{Familial hypocalciuric hypercalcemia}} | {{Familial hypocalciuric hypercalcemia}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Ajay}} | ||
==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== | ||
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.<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>. | * [[Prenatal testing]] for [[FHH]] is not recommended routinely. | ||
* If both parents have type-1 [[FHH]], their children should be [[Screening (medicine)|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 [[Hyperparathyroidism|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|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== |
Latest revision as of 15:31, 2 October 2017
Familial hypocalciuric hypercalcemia Microchapters |
Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Diagnosis |
Treatment |
Case Studies |
Familial hypocalciuric hypercalcemia screening On the Web |
American Roentgen Ray Society Images of Familial hypocalciuric hypercalcemia screening |
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".