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case report: werner syndrome with non-alcoholic fatty liver disease and elevated liver function tests in a 17-year-old male
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نویسنده
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kiani mohammad ali ,kianifar hamidreza ,jafari ali ,khalesi maryam ,rahimpour niloofar ,abavisani arefeh
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منبع
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journal of pediatric perspectives - 2025 - دوره : 13 - شماره : 2 - صفحه:19331 -19336
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چکیده
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Background: werner syndrome (ws) is a rare autosomal recessive disorder characterized by premature aging and various metabolic complications. non-alcoholic fatty liver disease (nafld) is primarily associated with metabolic syndrome, but its occurrence in young patients with ws is rarely reported. we describe the case of a 17-year-old male diagnosed with werner syndrome who presented with grade 2 nafld and elevated liver function tests (lfts).case presentation: a 17-year-old male, born to consanguineous parents, presented with clinical features suggestive of premature aging. genetic testing confirmed a mutation in the wrn gene, establishing a diagnosis of werner syndrome. liver ultrasound revealed grade 2 fatty liver, and liver biopsy confirmed moderate steatohepatitis (activity grade 6, stage 2). elevated liver enzymes were observed, although other metabolic parameters were within normal limits.conclusion: this case highlights the importance of recognizing liver involvement in patients with werner syndrome and underscores the need for routine monitoring and a multidisciplinary approach to management. genetic counseling is essential for families with consanguineous backgrounds to reduce the risk of autosomal recessive conditions like ws.
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کلیدواژه
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autosomal recessive disorder ,non-alcoholic fatty liver disease ,werner syndrome ,wrn gene
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آدرس
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mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran, mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran, mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran, mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran, mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran, mashhad university of medical sciences, faculty of medicine, department of pediatric gastroenterology, iran
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پست الکترونیکی
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abavisaniar4021@mums.ac.ir
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Authors
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