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.
Hypoparathyroidism screening
Introduction
Overview
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
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
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.
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]