Journal of pediatric endocrinology & metabolism : JPEM · 2023
A pediatric case of autosomal dominant hypocalcemia type 2.
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Takahashi Satoko, Fuchigami Tatsuo, Suzuki Junichi, Morioka Ichiro
Аннотация
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 PRESENTATION: The patient was a 15-year-old girl with short stature. Blood tests demonstrated hypocalcemia and hyperphosphatemia without elevated parathyroid hormone levels. Brain computed tomography revealed calcification in the bilateral basal ganglia. Genetic testing revealed the rare GNA11 mutation, c.1023C>G (p.Phe341Leu). The patient was diagnosed with ADH type 2. She had experienced numbness and tetany in her hands for several years, which improved with alfacalcidol therapy.
CONCLUSIONS: Our patient is the third female and first pediatric reported case of a variant mutation in the GNA11 gene (ADH type 2), c.1023C>G (p.Phe341Leu).
CASE PRESENTATION: The patient was a 15-year-old girl with short stature. Blood tests demonstrated hypocalcemia and hyperphosphatemia without elevated parathyroid hormone levels. Brain computed tomography revealed calcification in the bilateral basal ganglia. Genetic testing revealed the rare GNA11 mutation, c.1023C>G (p.Phe341Leu). The patient was diagnosed with ADH type 2. She had experienced numbness and tetany in her hands for several years, which improved with alfacalcidol therapy.
CONCLUSIONS: Our patient is the third female and first pediatric reported case of a variant mutation in the GNA11 gene (ADH type 2), c.1023C>G (p.Phe341Leu).