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Article

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

The Journal of international medical research - 1 Jul 2022

Wu Yingying, Zhang Chao, Huang Xiaojun, Cao Li, Liu Shihua, Zhong Ping

Abstract excerpt

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in the calcium-sensing receptor gene (CASR) which affect PTH secretion from the parathyroid gland and calcium resorption...

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Calcium
Hypercalcemia
Hypercalciuria
Hypocalcemia
Hypoparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Parathyroid Disorders and Treatments

Receptors, Calcium-Sensing

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Identifiers

PMID: 35818129
DOI: 10.1177/03000605221110489
PMCID: PMC9280832

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