It's time to revise the role of positive D- penicillamine challenge test in diagnosis of Wilson disease
Student Research in Translational Medicine,
Vol. 2 No. 3 (2020),
1 September 2020
,
Page 27-29
https://doi.org/10.22037/smsj.v2i3.29977
Abstract
Hepatic involvement in Wilson disease consists of isolated elevated liver enzyme, asymptomatic hepatomegaly, cirrhosis and acute liver failure. Here, we report three patients with unexplained elevated liver enzymes. By considering the level of urinary excretion of copper after penicillamine challenge test, we had some problems in the process of diagnosis. Therefore, we thought of cautiously applying the diagnostic cut-off in the mentioned challenge test- Keywords
- Wilson disease
- Penicillamine challenge test
- Pediatrics
- Diagnosis
How to Cite
References
Socha P, Janczyk W, Dhawan A, Baumann U, D’Antiga L, Tanner S, Iorio R, Vajro P, Houwen R, Fischler B, Dezsofi A. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Journal of pediatric gastroenterology and nutrition. 2018 Feb 1;66(2):334-44.
Wiernicka A, Dądalski M, Jańczyk W, Kamińska D, Naorniakowska M, Hüsing-Kabar A, Schmidt H, Socha P. Early onset of Wilson disease: diagnostic challenges. Journal of pediatric gastroenterology and nutrition. 2017 Nov 1;65(5):555-60.
Nicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R. Re‐evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 2010 Dec;52(6):1948-56.
Roberts EA. Update on the diagnosis and management of Wilson disease. Current gastroenterology reports. 2018 Dec 1;20(12):56.
El-Karaksy H, Fahmy M, El-Raziky MS, El-Hawary M, El-Sayed R, El-Koofy N, El-Mougy F, El-Hennawy A, El-Shabrawi M. A clinical study of Wilson’s disease: The experience of a single Egyptian Paediatric Hepatology Unit. Arab Journal of Gastroenterology. 2011 Sep 1;12(3):125-30.
Nicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R. Re‐evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 2010 Dec;52(6):1948-56.
Kalamar v. Childhood onset of wilson's disease: a case report (doctoral dissertation, university of zagreb. School of medicine. Chair of pediatrics.).
Ferenci P. Phenotype–genotype correlations in patients with Wilson's disease. Annals of the New York Academy of Sciences. 2014 May;1315(1):1-5.
- Abstract Viewed: 382 times
- PDF Downloaded: 191 times