• 동의생리병리학회지
• /
• 제16권5호
• /
• pp.1066-1069
• /
• 2002

Wilson's disease is a rare inborn error of metabolism inherited as a autosomal recessive trait. The disease has varied mode of manifestations. It is characterized by different neurologic disorder and hepatic disease. I experienced a case of Wilson's disease in 40 year old woman who was suffered from liver cirrhosis, severe anorexia, and classical neurologic symptoms such as tremour, dysarthria and ataxia. The symptoms was not relieved by D-penicillamine, Youngyanggaksan and Samchulgunbi-tang but anorexia was improved significantly by same medication.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제19권2호
• /
• pp.139-142
• /
• 2016

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal disease such as Alport syndrome. Proteinuria can lead to low ceruloplasmin since it is among serum proteins inappropriately filtered by the damaged glomerulus, and can also lead to increased urinary loss of heavy metals such as zinc and copper. Elevated transaminases may be attributed to dyslipidemia or drug induced hepatotoxicity. The accurate diagnosis of Wilson disease is essential for targeted therapy and improved prognosis. We describe a patient with a diagnosis of Alport syndrome who has had chronic elevation of transaminases eventually diagnosed with Wilson disease based on liver histology and genetics.

• Journal of Acupuncture Research
• /
• 제21권5호
• /
• pp.249-256
• /
• 2004

Objectives : Wilson's disease is an autosomal recessive abnormality in the hepatic excretion of copper that results in toxic accumulation of the metal in liver, brain, and other organs. The purpose of this case study is to show a case with Wilson's disease treated with acupuncture therapy. Methods : We experienced a 17 year old male patient with a Wilson's disease whose main symptoms are neurological symptoms, such as spasticity, quadripleia and dysphagia. The patient was treated with acupuncture therapy for 3 weeks. Results : Spasticity was assessed by the modified Ashworth scale in an every week. 1. Lt. elbow, wrist and ankle joint improved Gr.III to Gr.II. 2. Rt. each joints and Lt. knee joint seemed to improve a little but no grade changed. Conclusions : This study is just one case and the period of acupuncture therapy is short, which make this case study less sufficient to decide the effect of acupuncture therapy. However, in this case study, acupuncture therapy seems somewhat effective to neurological symptoms of Wilson's disease, such as spasticity and quadriplegia. We suggest that oriental medicine should be studied to cure Wilson's disease from now on.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제9권1호
• /
• pp.108-113
• /
• 2006

윌슨병에서 용혈성 빈혈과 전격성 간부전이 동반되면 혈장교환술이나 간이식이 필수적이다. 저자들은 간염과 용혈위기가 동반된 전격성 윌슨병 환아에서 혈장교환술을 계속하였으나 호전을 보이지 않아 교환수혈을 시행한 결과 용혈위기를 극복하였다. 현재까지 약물치료와 혈장교환술에 뒤이은 간이식이 일차 치료로 되어 있지만, 전격성 간부전이 응급으로 간이식을 해야 할 만큼 심하지 않은 경우에는 혈장교환술후 교환수혈을 시도할 수 있을 것으로 생각한다.

• Journal of Genetic Medicine
• /
• 제11권2호
• /
• pp.79-82
• /
• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제14권1호
• /
• pp.86-90
• /
• 2011

구리를 운반하는 P형 ATPase 단백을 합성하는 ATP7B 유전자의 돌연변이로 인하여 간, 뇌, 각막, 신장 및 적혈구 등 여러 조직에 구리가 축적되어 발병하는 상염색체 열성 유전 질환인 윌슨병은 간 증상과 신경증상이 주요 증상이지만 이외에도 용혈성 빈혈, 심장, 신장 및 내분비 이상 증상을 초래할 수 있다. 저자들은 윌슨병으로 진단되어 치료 받던 중 부갑상샘의 구리 침착에 의한 것으로 추측되는 부갑상샘저하증, 여러 복합요인에 의한 비타민 D 결핍 그리고 원인이 불명확한 저마그네슘혈증으로 인하여 발생한 테타니를 칼슘, 마그네슘 및 비타민 D 투여로 치료하였던 1예를 경험하였기에 보고하는 바이다.

• Childhood Kidney Diseases
• /
• 제8권2호
• /
• pp.250-255
• /
• 2004

월슨병은 구리 대사 이상으로 간, 뇌, 각막, 신 및 건혈구에 구리가 침착되어 생기는 상염색체 열성 유전성 질환이다. D-penicillamine이 주된 치료로서 10% 정도의 환자에서 가역적인 부작용이 발생 할 수 있다 저자는 3세된 여아에서 D-penicillamine치료 3주만에 미세변화형 신증후군이 발생하였고 투약 중단만으로 완전 관해된 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제5권2호
• /
• pp.206-211
• /
• 2002

윌슨병의 치료제로 구리 흡착제인 D-penicillamine이 주로 사용되고 있으나, 심각한 부작용이 발생할 경우 투약을 중단하고 trientine 등을 대체약으로 사용할 수 있다. 저자들은 윌슨병으로 D-penicillamine 사용 도중 6개월만에 미세변화형 신증후군이 발생한 후 trientine으로 치료약을 대체 후 관해가 유도된 1례를 경험하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
• /
• 제1권1호
• /
• pp.33-37
• /
• 2001

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제18권2호
• /
• pp.121-127
• /
• 2015

Purpose: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. Methods: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated. Results: Mean age was $8.5{\pm}1.5years$. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >$100{\mu}g/day$ was found in 81% cases and urinary copper following penicillamine challenge of >$1,200{\mu}g/day$ was found in 92% cases. Conclusion: Majority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.