Diagnosis of two Wilson's disease patients in one pedigree and analysis of related factors of its different clinical phenotypes / 基础医学与临床

ABSTRACT

Objective To study the clinical features of Wilson's disease patients with different clinical phenotypes in one pedigree. To make the diagnosis and summarize the factors influencing the clinical manifestations of patients with Wilson's disease. Methods The clinical data of siblings in this pedigree were collected.The literature about the fac-tors influencing the clinical phenotype of Wilson's disease were found. Results There were two siblings in one pedi-gree with Wilson's disease.The younger brother whose phenotype is liver-type,was 6 years old. His brother was 16 years old and showed mixed type(nerve+kidney).Their genotype are exon5.c.1714delG(maternal),exon8.c.2333G>T,p.R778L(paternal). They have the same genotype but different phenotypes and different age of onset. After re-viewing the literature,we found some factors outside the ATP7B gene may also affect the clinical phenotype. Conclu-sions Genetic testing is of great importance in children with Wilson's disease.Screening for hepatolenticular degener-ation should be performed in children with liver disease or neurological manifestations.In addition to the ATP7B gene, the clinical phenotype of hepatolenticular degeneration may also be affected by many other factors.