SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION

Autor:	Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	congenital adrenal hyperplasia glucocorticoid 21-hydroxilase adrenal crisis Medicine Pediatrics RJ1-570
Zdroj:	Romanian Journal of Pediatrics, Vol 66, Iss 4, Pp 243-247 (2017)
Druh dokumentu:	article
ISSN:	1454-0398 2069-6175
DOI:	10.37897/RJP.2017.4.5
Popis:	Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease. This is a case report of a 2-month male infant having salt loss deficiency and classic congenital adrenal hyperplasia, without evident signs of virilization. The diagnosis was made based on the medical history of the family, on the clinical and biological data. The outcome can be favorable as long as the glucocorticoid replacement therapy is complied with. Moreover, adrenal crisis and major metabolic imbalance increase the risk of death.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/176c3edbdecb492db61a884356b16167 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF