• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.5
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• pp.1066-1069
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• 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
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• v.19 no.2
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• pp.139-142
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• 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
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• v.21 no.5
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• pp.249-256
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• 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
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• v.9 no.1
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• pp.108-113
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• 2006

In case of Wilson's disease complicated with hemolytic anemia and fulminant hepatic failure; plasma exchange or liver transplantation should be considered. We report an 11 year-old male with fulminant Wilson's disease who developed hemolytic crisis. He was recovered by exchange transfusion after 6 times of plasma exchange.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.79-82
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• 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
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• v.14 no.1
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• pp.86-90
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• 2011

Wilson's disease is an autosomal recessive disorder of copper metabolism consequence of which leads to accumulation of copper in the liver, brain, cornea and other tissues. The manifestations are more likely to be hepatic in the early childhood and neurological in the adolescents. In addition, the abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. We report a thirteen year-old girl who manifested tetany shortly after the initial diagnosis of Wilson's disease. Despite aggressive calcium, magnesium and vitamin D replacement, the hypocalcemia and hypomagnesemia did not respond to the therapy promptly. It took more than three weeks for blood levels of the minerals to be normal. We concluded that tetany occurred in our patient because of hypoparathyroidism as a rare complication of Wilson disease, vitamin D deficiency resulting from various conditions, and inconclusive hypomagnesemia.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.250-255
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• 2004

Wilson's disease is an autosomal recessive disorder characterized by degenerative changes in the brain, liver, and cornea. Treatment includes D-penicillamine, trientine, and zinc sulfate. D-penicillamine has been used frequently as first line therapy for Wilson's disease. However, nephrotoxicity can occur after D-penlcillamlne treatment. Among them membranous glomerulopathy is the most common histological abnormality but minimal change lesions have also been reported. Nephrotic syndrome is a late complication of D-penicillamine treatment but very rarely can occur within 2 months after treatment of D-penicillamine. We report the early development of minimal change nephrotic syn,frome in a 3-year-old'girl with Wilson's disease 3 weeks after initiation of D-penicillamine.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.2
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• pp.206-211
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• 2002

Wilson's disease is a treatable autosomal recessive inherited disorder of copper metabolism due to mutation of the copper transporting gene. The basic strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both a low copper diet and copper-chelating agents. D-penicillamine is the first choice as a copper-chelating agent. Some serious side effects could occur in 3~5% of all patients following D-penicillamine therapy. We report a 19 year-old male with Wilson's disease who developed nephrotic syndrome 6 months after the initiation of D-penicillamine therapy. Prednisolone was administered to control nephrotic syndrome and D-penicillamine was switched to trientine. Urinary remission was achieved within a week and maintained thereafter. Nephrotic syndrome was proven to be MCNS by kidney biopsy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.33-37
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• 2001

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.2
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• pp.121-127
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• 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.