Wilson’s disease clinic at the Assiut Liver Center in Egypt: a real well-established step on the way
Tóm tắt
Wilson’s disease (WD) is a rare genetic disorder of copper metabolism that results in dysfunction of copper excretion into bile leading to its accumulation in the liver, brain, cornea, and kidney. Only a few epidemiological studies about WD have been carried out, with limited available data about the disease. The most common liver disease in Egypt is viral hepatitis, which masks other liver diseases, especially in adults. This review describes the establishment of the first specialized WD clinic in the Assiut Liver Center, Upper Egypt. This multidisciplinary clinic comprises stakeholders working in WD management from different specialties, including hepatologists, pediatric hepatologists, neuropsychiatrists, dieticians, radiologists, pathologists, and ophthalmologists. Over 2 years since the launch of the WD clinic in February 2020, a total of 64 WD suspected cases were referred to our center. The WD clinic at the Assiut Liver Center is a step to provide an integrated service for neglected diseases like WD. Besides the provided integrated services for WD patients, a family screening program is applied with satisfying results.
Tài liệu tham khảo
Kasztelan-Szczerbinska B, Cichoz-Lach H (2021) Wilson’s disease: an update on the diagnostic workup and management. J Clin Med 10(21):5097
Gao J, Brackley S, Mann JP (2019) The global prevalence of Wilson disease from next- generation sequencing data. Genet Med 21(5):1155–1163
Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P (2020) The prevalence of Wilson’s disease: an update. Hepatology. 71(2):722–732
Wijayasiri P, Hayre J, Nicholson ES, Kaye P, Wilkes EA, Evans J et al (2021) Estimating the clinical prevalence of Wilson’s disease in the UK. JHEP Rep 3(5):100329
Ala A, Borjigin J, Rochwarger A, Schilsky M (2005) Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 3:668–670
Srinivas K, Sinha S, Taly AB, Prashanth LK, Arunodaya GR, Reddy YJ et al (2008) Dominant psychiatric manifestations in Wilson’s disease: a diagnostic and therapeutic challenge! J Neurol Sci 266(1-2):104–108
Litwin T, Dusek P, Szafrański T, Dzieżyc K, Członkowska A, Rybakowski JK (2018) Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Therapeut Adv Psychopharmacol 8(7):199–211
Palumbo CS, Schilsky ML (2019) Clinical practice guidelines in Wilson disease. Ann Transl Med 7(Suppl 2):S65. https://doi.org/10.21037/atm.2018.12.53
Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H (2008) Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. J Human Genet 53:681–687
El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM et al (2014) Gene mutations in Wilson disease in Egyptian children: report on two novel mutations. Arab J Gastroenterol 15:114–118
Abdel Ghaffar TY, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H (2011) Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. BMC Pediatr 11:56
Barada K, El Haddad A, Katerji M, Jomaa M, Usta J (2017) Wilson’s disease in Lebanon and regional countries: homozygosity and hepatic phenotype predominance. World J Gastroenterol 23(36):6715–6725
Https://www.citypopulation.de/en/egypt/cities, Accessed 11 Jan 2022.
Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I et al (2003) Diagnosis and phenotypic classification of Wilson disease 1. Liver International. 23(3):139–142
Koppikar S, Dhawan A (2005) Evaluation of the scoring system for the diagnosis of Wilson’s disease in children. Liver International 25(3):680–681
Nicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R (2010) Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 52(6):1948–1956
European Association for The Study of The Liver (2012) EASL clinical practice guidelines: Wilson’s disease. J Hepatol 56(3):671–685
Roberts EA, Schilsky ML (2008) American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 47:2089–2111
Socha P, Janczyk W, Dhawan A, Baumann U, D’Antiga L, Tanner S et al (2018) Wilson’s disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutri 66(2):334–344