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Article

A pediatric case of autosomal dominant hypocalcemia type 2.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2023

Takahashi Satoko, Fuchigami Tatsuo, Suzuki Junichi, Morioka Ichiro

Abstract excerpt

OBJECTIVES: Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and hyperphosphatemia secondary to hypoparathyroidism. It is classified as type 1, caused by gain-of-function mutations of the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, which is a crucial mediator of CASR signaling. What is new? We report a rare pediatric case of ADH type 2. CASE...

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Adolescent
GNA11 gene
GTP-Binding Protein alpha Subunits
Hypercalciuria
Hypocalcemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypoparathyroidism

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Identifiers

PMID: 37579049
DOI: 10.1515/jpem-2023-0097

Genes

GNA11
CASR

Variants

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