CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (TWO CASES FROM THE SAME FAMILY)

Autor:	M. A. Kuznetsova, Tatiana V. Elizarova, S. A. Khmilevskaya, G. V. Zaytseva, N. I. Zryachkin
Rok vydání:	2019
Předmět:	Pediatrics medicine.medical_specialty business.industry Medicine General Medicine Congenital central hypoventilation syndrome business medicine.disease
Zdroj:	Russian Pediatric Journal. 20:180-184
ISSN:	2413-2918 1560-9561
DOI:	10.18821/1560-9561-2017-20-3-180-184
Popis:	There is described the clinical picture of a rare genetic disease - idiopathic Congenital Central Hypoventilation Syndrome (CCHS), characterized by the disturbance of the autonomous control of breathing, leading to an inadequate response to ventilation, hypercapnia and anoxia of the body. There are presented clinical observations of CCHS in two girls from the same family, who had the classic symptoms of the disease. Correct and timely diagnosis was shown to allow timely provide adequate patient management.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::268477edda3a6e2fb08657e98329584c https://doi.org/10.18821/1560-9561-2017-20-3-180-184 Zobrazit plný text záznamu