Wilson Disease in Children: Diagnosis and Management Update

Autor:	Benzamin, Rubaiyat Alam, Sharmistha Ghosal, Nayma Rahman, Rafiqul Islam
Rok vydání:	2021
Předmět:	medicine.medical_specialty business.industry Medicine Disease business Intensive care medicine
Zdroj:	KYAMC Journal. 11:212-217
ISSN:	2308-2860 2308-2720
Popis:	Wilson disease is an autosomal recessive, copper storage disease, caused by a mutation in the ATP7B gene. Due to mutation in ATP7B is decreased secretion of ceruloplasmin into blood and decrease in excretion of copper into bile. Excess copper accumulate to toxic levels,mainly in the liver and secondarily in other organs. Children clinically become symptomatic after the age of 5 years. Clinical features ranges from asymptomatic raised transaminases to variable degree of liver disease, neurological symptoms and according involvement of other oragns. Diagnosis of Wilson disease is challenging. Modified Leip-zig score is useful for diagnosis. Treatment can be done with zinc and other chelators. KYAMC Journal Vol. 11, No.-4, January 2021, Page 212-217
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::b932020e107badb5a5f7f97349123f2e https://doi.org/10.3329/kyamcj.v11i4.52000 Zobrazit plný text záznamu