Wilson's disease in two siblings from Ecuador:Two case reports  

作　　者：Enrique Carrera Jonathan Alvarado Martina Astudillo Galo Pillajo 

机构地区：[1]Department of Gastroenterology and Hepatology,Hospital de Especialidades Eugenio Espejo,Quito 170136,Pichincha,Ecuador [2]Faculty of Medicine,Pontificia Universidad Catolica del Ecuador,Quito 170143,Pichincha,Ecuador [3]Department of Radiology,Hospital de Especialidades Eugenio Espejo,Quito 170136,Pichincha,Ecuador

出　　处：《World Journal of Clinical Cases》2025年第3期50-60,共11页世界临床病例杂志（英文）

摘　　要：BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are limited.Prompt diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life expectancy.The clinical presentations and outcomes of WD can vary within a single family.CASE SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family screening.The male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer rings.He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages.His condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of follow-ups.The female patient,diagnosed at age 10,exhibited only biochemical alterations.Her treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up period.We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic strategies.CONCLUSION Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.

关 键 词：Wilson disease Kayser-Fleischer rings Copper chelator D-PENICILLAMINE Trientine tetrahydrochloride Case report 

分 类 号：R589[医药卫生—内分泌]