A case of severe neonatal hyperparathyroidism due to defect in calcium receptors | Zendy

А. В. Витебская | Zendy; Е. Е. Петряйкина | Zendy; А Ю Разумовский | Zendy; А А Павлов | Zendy; Anatoly Tiulpakov | Zendy

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A case of severe neonatal hyperparathyroidism due to defect in calcium receptors

Author(s) -

А. В. Витебская,

Е. Е. Петряйкина,

А Ю Разумовский,

А А Павлов,

Anatoly Tiulpakov

Publication year - 2010

Publication title -

problems of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.124

H-Index - 5

eISSN - 2308-1430

pISSN - 0375-9660

DOI - 10.14341/probl201056427-33

Subject(s) - hyperparathyroidism , parathyroid hormone , calcium sensing receptor , medicine , endocrinology , population , calcium , pediatrics , environmental health

The first case of severe neonatal hyperparathyroidism in the Russian population verified by molecular-genetic testing is described. The patient presented with very high calcium and parathyroid hormone (PTH) levels and showed characteristic clinical symptoms of hyperparathyroidism in the absence of lesions in long tubular bones. Removal of all parathyroid glands resulted in normalization of laboratory parameters and general health status of the patient. Diagnosis of severe neonatal hyperparathyroidism was confirmed by sequencing the CASR gene while parents of the child were shown to suffer familial hypocalciuric hypercalcemia.

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