Department of Pediatrics, Marie Curie Emergency Children's Hospital, 041451 Bucharest, Romania.
Department of Physiology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Medicina (Kaunas). 2023 Apr 18;59(4):786. doi: 10.3390/medicina59040786.
Wilson's disease (WD) is an autosomal recessive disorder, in which the metabolism of copper is affected by metal accumulation in several organs that causes gradual organ degeneration. Since Wilson's initial description of WD over a century ago, there have been significant improvements in understanding and managing the condition. Nevertheless, the ongoing gap between the onset of symptoms and diagnosis highlights the difficulties in identifying this copper overload disorder early. Despite being a treatable condition, detecting WD early remains a challenge for healthcare professionals at all levels of care, likely due to its rarity. The key challenge is, therefore, to educate physicians on how to identify atypical or infrequent symptoms of WD, prompting them to consider the diagnosis more carefully. The purpose of our review is to draw attention to the difficulties associated with diagnosing pediatric WD, starting from our personal experience of a complex case and then examining relevant literature. In summary, the diagnosis of WD in children is intricate and requires a heightened level of suspicion to identify this infrequent condition. A thorough evaluation by a multidisciplinary team of physicians, along with genetic testing, histopathologic examination, and specialized imaging studies, may be necessary to confirm the diagnosis and guide treatment.
威尔逊病（WD）是一种常染色体隐性遗传病，其铜代谢受到多种器官内金属蓄积的影响，导致这些器官逐渐发生退行性变。自 Wilson 一个多世纪前首次描述 WD 以来，人们对该病的认识和治疗已有了显著的提高。然而，症状出现和诊断之间的持续差距凸显了早期识别这种铜过载疾病的困难。尽管 WD 是一种可治疗的疾病，但对于各级医疗保健专业人员来说，早期发现 WD 仍然是一个挑战，这可能是由于其罕见性所致。因此，关键的挑战是教育医生如何识别 WD 的非典型或不常见症状，促使他们更仔细地考虑诊断。我们的综述旨在提请人们注意诊断儿童 WD 时遇到的困难，首先从我们对一个复杂病例的个人经验开始，然后再检查相关文献。总之，儿童 WD 的诊断较为复杂，需要高度警惕才能识别这种罕见的疾病。由医生组成的多学科团队进行全面评估，包括基因检测、组织病理学检查和专门的影像学研究，可能有必要确认诊断并指导治疗。
