苏丹的小儿威尔逊病：罕见病例、苏丹冲突和诊断挑战
Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges.
摘要(中文译文)
威尔逊病在非洲儿童中鲜有报道。威尔逊病由ATP7B基因突变引起，呈常染色体隐性遗传模式，导致铜排泄缺陷以及铜在肝脏和大脑等组织中蓄积。据我们所知，这是苏丹报道的第二例威尔逊病病例，它凸显了在资源匮乏环境中诊断和管理所面临的挑战。本报告进一步说明，公共卫生系统有必要提高对罕见病的认识和责任意识，尤其是在诊断手段和特殊治疗可及性有限的情况下。一名13岁苏丹裔男性，父母为近亲婚配，表现为进行性全身性水肿、黄疸和腹水。体格检查观察到Kayser-Fleischer环。实验室检查显示低白蛋白血症、血小板减少症，并有同胞死亡的家族史。此外，其神经精神状况存在异常。脑部MRI显示基底节区高信号，即所谓的“大熊猫征”。基于血清铜降低、溶血性贫血和家族史，诊断为威尔逊病，Leipzig评分为7/10。最初给予D-青霉胺治疗，随后给予锌剂，但未能阻止神经功能恶化。这种恶化发生在就诊间隔期间。此外，当时唯一可替代的疗法——各种剂型的曲恩汀——均不可获得。威尔逊病被认为罕见，但确实发生于非洲儿童中，然而由于资源限制仍存在诊断不足。本病例凸显了诊断挑战、临床怀疑的关键作用，以及在资源匮乏环境中迫切需要可及的诊断手段和可负担的疗法以改善预后。
Abstract
Wilson disease is rarely reported among African children. Wilson disease is due to a mutation in ATP7B on an autosomal recessive pattern, which causes defective copper excretion and copper accumulation in tissues such as liver and brain. To the best of our knowledge, this is the second reported case of Wilson disease from Sudan, and it highlights the challenges of diagnosis and management in low-resource settings. Our report strengthens the need for awareness and accountability of rare diseases in public health systems, especially when access to diagnostics and special therapies is limited. A 13-year-old male of Sudanese descent with consanguineous parents presented with progressive generalized edema, jaundice, and ascites. On physical examination, Kayser-Fleischer rings were observed. Laboratory tests revealed hypoalbuminemia, thrombocytopenia, and a family history of sibling deaths. Additionally, there was a difference in neuropsychiatric status. MRI of the brain demonstrated hyperintensities in the basal ganglia, known as the "giant panda sign." A diagnosis of Wilson disease was made, with a Leipzig score of 7/10, based on low serum copper, hemolytic anemia, and the family history. Initial therapy with D-penicillamine and then zinc was administered, but it failed to prevent neurological decline. This deterioration occurred between visits. Moreover, the only alternate therapy, trientine, in all its forms, was not available at the time. Wilson disease, thought rare, occurs in African children but remains underdiagnosed due to resource constraints. This case highlights diagnostic challenges, the critical role of clinical suspicion, and urgent need for accessible diagnostic and affordable therapies in low-resource settings to improve outcome.
如何引用
AMA
Amjed Abdu Ali Mohammed, Anaheed Alzubair Mohammed HabeebAllah, Sudad Salahaldeen Hassan Mohammed, Aprar Kamal Mohammed Ali Almamoon, Mehad Mortada BadrAlden Ahmed, Arafa Mubarak Abotalib Aref, et al. Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges.. Clinical case reports. 2026; doi:10.1002/ccr3.72849.
APA
Amjed Abdu Ali Mohammed, Anaheed Alzubair Mohammed HabeebAllah, Sudad Salahaldeen Hassan Mohammed, Aprar Kamal Mohammed Ali Almamoon, Mehad Mortada BadrAlden Ahmed, Arafa Mubarak Abotalib Aref, et al (2026). Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges.. Clinical case reports. https://doi.org/10.1002/ccr3.72849
GB/T 7714
Amjed Abdu Ali Mohammed, Anaheed Alzubair Mohammed HabeebAllah, Sudad Salahaldeen Hassan Mohammed, Aprar Kamal Mohammed Ali Almamoon, Mehad Mortada BadrAlden Ahmed, Arafa Mubarak Abotalib Aref, et al. Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges.[J]. Clinical case reports, 2026 doi:10.1002/ccr3.72849.
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