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

Autor:	Oana Falup-Pecurariu, Alina Stoicescu, Roxana Tanase, Carmen Pascu, Serban Rogoz, Elena Georgescu
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Pediatrics medicine.medical_specialty Chronic condition adrenal crisis business.industry Metabolic disorder 21-hydroxilase General Medicine medicine.disease RJ1-570 medicine congenital adrenal hyperplasia Medicine glucocorticoid business Cause of death
Zdroj:	Romanian Journal of Pediatrics, Vol 66, Iss 4, Pp 243-247 (2017)
ISSN:	2069-6175 1454-0398
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:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c01e3d2829fb30c95944a80fea32d8 https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2017-Nr.4/RJP_2017_4_EN_Art-05.pdf Zobrazit plný text záznamu Plný text ve formátu PDF