Department of Paediatrics, Shifa Tameer e Millat University, Islamabad, Pakistan.
Department of Surgery, Shifa Tameer e Millat University, Islamabad, Pakistan.
J Ayub Med Coll Abbottabad. 2021 Jan-Mar;33(1):30-33.
Wilson's disease is a genetically transmitted disease and has a variety of clinical manifestations. We evaluated the various clinical and biochemical presentations of Wilson's disease (WD) at different ages.
This cross-sectional study was conducted in Shifa international hospital and Shifa Foundation Falahi Clinic (SFFC), Islamabad. Data from Jan 2010 to Dec 2018 was retrieved from hospital medical record on a structured proforma. All patients who had twenty-four hours urinary copper level of ≥100 mcg/day were included in the study. Their presenting symptoms, clinical signs and lab investigations were noted.
Mean age was 13±4.588 years. Male to female ratio was 1.5:1. Hepatic disease was seen in 35 (68.6%) patients mainly in <10 yrs age group. Pure neurological Wilson's was seen in 14 (27.45%) cases, which were >10 years of age while 18(35.3%) had hepato-neurological manifestations. Keyser Fleischer rings were present in 26 (51%) of total patients and 14 (100%) of neurological cases. Hepatic transaminases were elevated in 36 (70 %) patients. Low serum cerruloplasmin was seen in 37 (72.5%) cases. Mean value of haemoglobin was 10.38±2.772. Mean 24 hours urinary copper was 597.6±605.446. Consanguinity was seen among 33 (64.7%) families. Family history of WD was positive in 21 (41.2%) patients.
Hepatic form of WD is more common, yet neurological presentation is seen in patients >10 years of age.
威尔逊病是一种遗传性疾病，具有多种临床表现。我们评估了不同年龄段威尔逊病（WD）的各种临床和生化表现。
本横断面研究在伊斯兰堡的 Shifa 国际医院和 Shifa 基金会 Falahi 诊所（SFFC）进行。从 2010 年 1 月至 2018 年 12 月，从医院病历中检索到数据，并记录在结构化表格上。所有 24 小时尿铜水平≥100mcg/天的患者均纳入本研究。记录他们的症状、临床体征和实验室检查结果。
平均年龄为 13±4.588 岁。男女比例为 1.5:1。肝疾病见于 35 名（68.6%）患者，主要见于<10 岁年龄组。单纯神经型 WD 见于 14 名（27.45%）年龄>10 岁的患者，18 名（35.3%）有肝神经表现。Keyser Fleischer 环见于 26 名（51%）患者，见于 14 名（100%）神经型病例。肝转氨酶升高见于 36 名（70%）患者。低血清铜蓝蛋白见于 37 名（72.5%）患者。平均血红蛋白值为 10.38±2.772。平均 24 小时尿铜为 597.6±605.446。33 个家庭（64.7%）存在血缘关系。21 名（41.2%）患者的 WD 家族史阳性。
肝型 WD 更为常见，但神经型表现见于>10 岁的患者。
