PharmatecaPharmatecaФарматека2073-40342414-9128Bionika Media282481ArticlesСтатьиResearch ArticleKlinicheskiy sluchay psevdogipoparatireoza u muzhchiny 33 letКлинический случай псевдогипопаратиреоза у мужчины 33 летPoteshkinYu. EПотешкинЮ. Е

ассистент кафедры эндокринологии лечебного факультета

yuriy.poteshkin@gmail.comГБОУ ВПО «Первый МГМУ им. И.М. Сеченова» Минздрава России200820132016NO16 (2013)№16 (2013)929525022023Copyright ©; 2013, Bionika MediaCopyright ©; 2013, ООО «Бионика Медиа»2013Bionika MediaООО «Бионика Медиа»https://journals.eco-vector.com/2073-4034/article/view/282481

Pseudohypoparathyreosis (PHP) and Albright's hereditary osteodystrophy (AHO) are very rare and heterogeneous diseases with a proven genetic component. The reasons for the development of PHP are the genetic defect of G-protein of parathyroid hormone receptor, or a defect in the intracellular signaling system of targeting cells, which lead to resistance to parathyroid hormone. The most characteristic clinical features of the AHO are brachydactyly in conjunction with heterotopic ossification; in addition, the symptoms of AHO include moon face, low height, central obesity, and varying degrees of mental retardation. Due to variety of clinical manifestations, PHP can be undetected for a long time. This clinical case is dedicated to the features of diagnosis and treatment of PHP.

Псевдогипопаратиреоз (ПГП) и наследственная остеодистрофия Олбрайта (НОО) - очень редкие и гетерогенные заболевания с доказанным генетическим компонентом. Причиной развития ПГП служит генетический дефект G-белка рецептора к паратгормону (ПТГ) или дефект во внутриклеточной сигнальной системе клеток-мишеней, которые приводят к резистентности к ПТГ. Самыми характерными клиническими признаками НОО является брахидактилия в сочетании с гетеротопической оссификацией; кроме того, симптомами НОО могут быть лунообразное лицо, низкий рост, центральное ожирение и различная степень умственной отсталости. В силу разнообразия клинических проявлений ПГП может оставаться недиагностируемым длительное время. Этот клинический случай посвящен особенностям диагностики и лечения ПГП.

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