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

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Vitebskaia A.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Razumovsky A.Yu.

Subdepartment of Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University under the Ministry of Health of the Russia, Moscow, Russia, 117997

ORCID: 0000-0003-3511-0456

Pavlov A.A.

Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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

Authors:

Vitebskaia A.V., Petriaĭkina E.E., Razumovsky A.Yu., Pavlov A.A., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2010;56(4): 27‑33

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To cite this article:

Vitebskaia AV, Petriaĭkina EE, Razumovsky AYu, Pavlov AA, Tiul'pakov AN. A case of severe neonatal hyperparathyroidism due to defect in calcium receptors. Problems of Endocrinology. 2010;56(4):27‑33. (In Russ.)

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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.

Keywords:

neonatal hyperparathyroidism

calcium-sensing receptor

CASR gene

Authors:

Vitebskaia A.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Razumovsky A.Yu.

Subdepartment of Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University under the Ministry of Health of the Russia, Moscow, Russia, 117997

ORCID: 0000-0003-3511-0456

Pavlov A.A.

Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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