سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Kiani, Mohammad Ali, Kianifar, Hamidreza, Jafari, Sayyad Ali, khalesi, Maryam, Rahimpour, Niloofar, Ghazizadeh Hashemi, Sayyed Amir Hossein, Abavisani, Arefeh. (1403). Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male. , 13(2), 19331-19336. doi: 10.22038/jpp.2025.86623.5530
Mohammad Ali Kiani; Hamidreza Kianifar; Sayyad Ali Jafari; Maryam khalesi; Niloofar Rahimpour; Sayyed Amir Hossein Ghazizadeh Hashemi; Arefeh Abavisani. "Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male". , 13, 2, 1403, 19331-19336. doi: 10.22038/jpp.2025.86623.5530
Kiani, Mohammad Ali, Kianifar, Hamidreza, Jafari, Sayyad Ali, khalesi, Maryam, Rahimpour, Niloofar, Ghazizadeh Hashemi, Sayyed Amir Hossein, Abavisani, Arefeh. (1403). 'Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male', , 13(2), pp. 19331-19336. doi: 10.22038/jpp.2025.86623.5530
Kiani, Mohammad Ali, Kianifar, Hamidreza, Jafari, Sayyad Ali, khalesi, Maryam, Rahimpour, Niloofar, Ghazizadeh Hashemi, Sayyed Amir Hossein, Abavisani, Arefeh. Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male. , 1403; 13(2): 19331-19336. doi: 10.22038/jpp.2025.86623.5530

Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male

Journal of Pediatric Perspectives
دوره 13، شماره 2، اردیبهشت 2025، صفحه 19331-19336    اصل مقاله (298.41 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/jpp.2025.86623.5530
نویسندگان
Mohammad Ali Kiani1؛ Hamidreza Kianifar1؛ Sayyad Ali Jafari2؛ Maryam khalesi3؛ Niloofar Rahimpour* 4؛ Sayyed Amir Hossein Ghazizadeh Hashemi5؛ Arefeh Abavisani6
1Professor of Pediatric Gastroenterology and Hepatology, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2Associate Professor of Pediatric Gastroenterology and Hepatology, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
3Associate Professor of Pediatric Gastroenterology and Hepatology, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
4Pediatric Resident, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
5Associate Professor of Otorhinolaryngology, Head and Neck Surgery, Department of Otolaryngology, Loghman Educational Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
6Pediatric Gastroenterology and Hepatology Fellow, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
چکیده
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.
کلیدواژه‌ها
Autosomal recessive disorder؛ Non-Alcoholic Fatty Liver Disease؛ Werner syndrome؛ WRN gene
مراجع
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