Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Familial hypocalciuric hypercalcemia screening
Introduction
Overview
Overview
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.[1][2]
References
References
- ↑ Fernández López I, Fernández Peña I, Cózar León MV, Viloria Peñas MM, MartÃnez De Pinillos Gordillo G, Fernández-Ladreda MT, Duran GarcÃa 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”.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]