Search

Background Wilson disease (WD) is an autosomal-recessive metabolic disorder characterized by excess copper accumulation predominantly in the liver, brain, and cornea. Clinical diagnosis of WD remains a challenge because of its phenotypic heterogeneity. Here we describe the novel mutation (p. K838N) in the ATP7B gene of a child with WD. The mutation affects a conserved ATP-binding domain that is involved in the catalytic cycle. We also describe the clinical outcome of this patient. Case presentation: We reported a successful early diagnosis and treatment of WD in a 5-year-old boy who presented with unexplained liver dysfunction and hepatitis. Using whole-exome sequencing (WES), we identified a novel ATP7B mutation, K838N, which is valuable for early diagnosis of WD. After combination therapy with penicillamine, zinc supplement, low-copper diet, and supportive treatments for infections, liver problems, and jaundice, the patient’s medical condition gradually improved and stabilized in a clinical follow-up. We suggested that the novel K838N mutation in the case of WD might impair protein function and contribute to WD progression. Conclusions This case emphasizes the importance of WD diagnostic tests during clinical evaluation for patients presenting with an unexplained liver disorder in childhood for better outcomes and genetic counseling.

Monkeypox is a zoonotic disease. Since the first human monkeypox case was detected in 1970, it has been prevalent in some countries in central and western Africa. Since May 2022, monkeypox cases have been reported in more than 96 non-endemic countries and regions worldwide. As of September 14, 2022, there have been more than 58,200 human monkeypox cases, and there is community transmission. The cessation of smallpox vaccination in 1980, which had some cross-protection with monkeypox, resulted in a general lack of immunity to monkeypox, which caused global concern and vigilance. As of September 14, 2022, there are four monkeypox cases in China, including three in Taiwan province and one in Hong Kong city. Previous foreign studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications. In order to improve pediatricians' understanding of monkeypox and achieve early detection, early diagnosis, early treatment, and early disposal, we have organized national authoritative experts in pediatric infection, respiratory, dermatology, critical care medicine, infectious diseases, and public health and others to formulate this expert consensus, on the basis of the latest "Clinical management and infection prevention and control for monkeypox" released by The World Health Organization, the "guidelines for diagnosis and treatment of monkeypox (version 2022)" issued by National Health Commission of the People's Republic of China and other relevant documents. During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis, differential diagnosis, treatment, discharge criteria, prevention, disposal process, and key points of prevention and control of suspected and confirmed cases.