ABSTRACT
Wilson's disease (WD) is an autosomal recessive genetic disorder caused by more than 50 different mutations in the APT7B gene. A defect in the gene product results in copper accumulation mainly in the liver, basal ganglia in the brain, cornea, kidneys, and heart, leading to dysfunction and eventually organ failure. We present a case of a 15-year-old male with a minority background who did not receive any form of treatment and ultimately succumbed to the disease. He was previously hospitalized due to suspected autoimmune-mediated acute liver failure (ALF) with positive antinuclear autoantibodies. Abdominal ultrasound revealed uneven contours and diffusely abnormal structure of the liver, interpreted as liver cirrhosis (LC), and splenomegaly. In view of WD as a potential differential diagnosis, a genetic consultation recommended the performance of genetic testing. The patient received symptomatic and corticosteroid therapy and was discharged from the hospital with improved general status. Three days later, the teen experienced deterioration and was readmitted to the hospital in a critical state. Reanimation measures had a temporary effect and ultimately exitus letalis was registered. The autopsy study revealed mixed micronodular and macronodular LC, chronic steatohepatitis, hepatosplenomegaly, ascites, icterus, gynecomastia, telangiectasias, subcutaneous hemorrhages, absence of male pattern body hair, hypogonadism, and chronic calculous cholecystitis as a result of untreated WD. Complications of the main disease appeared to be hepatorenal syndrome, severe bilateral purulent-hemorrhagic pneumonia probably with mixed etiology, acute cardiac failure with congestive changes in all internal organs, pleural and pericardial effusions, pulmonary edema, and cerebral edema with tonsillar herniation. The ATP7B gene sequencing supported the clinical diagnosis and the autopsy suspicion of WD, showing that the boy was homozygous for an H1069Q mutation.
ABSTRACT
There is strong evidence indicating that inflammatory bowel disease (IBD) is increasing among black and minority ethnic (BME) communities. Despite this rise in prevalence, there is a paucity of research relating to ethnicity and IBD outside the USA. Furthermore, the symptoms of IBD are reported to start during childhood or adolescence in 20-25% of people with the condition. It is therefore important that young people's experiences of diagnosis, treatment and living with IBD are fully understood to ensure effective services and information provision. The study reported on in this paper was commissioned by a UK charity (Crohn's and Colitis UK) with the aim of increasing understanding of the specific issues and service needs of young people with IBD from BME communities. Empirical research entailed in-depth semi-structured interviews with 20 young people from BME groups accessed through gastroenterology departments at three collaborating NHS hospitals in England serving ethnically diverse populations. Interviews were carried out from June to December 2010 and sought to capture young people's views with IBD. A thematic analysis of their experiences identified many commonalities with other young people with IBD, such as the problematic route to formal diagnosis and the impact of IBD on education. The young people also experienced tensions between effective self-management strategies and cultural norms and practices relating to food. Moreover, the ability of parents to provide support was hampered for some young people by the absence of culturally competent services that were responsive to the families' communication needs. The findings highlight the need for more culturally appropriate information concerning IBD, and improved responsiveness to young people with IBD within primary care and the education system, as well as culturally competent messaging relating to the specific nature of the condition among the wider South Asian and black communities.