Fulminant hepatic failure and acute intravascular haemolysis as presenting manifestations of Wilson's disease in young children

Walia, B. N. S.; Singh, Savitri; Marwaha, R. K.; Bhusnurmath, S. R.; Dilawari, J. B.

doi:10.1111/j.1440-1746.1992.tb01000.x

Cited by 15 publications

(11 citation statements)

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“…Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene (OMIM #606882). Lack of copper excretion causes excessive copper deposits in the liver, brain and other tissues (Brewer & Yuzbasiyan‐Gurkan, ; Petrukhin et al, ; Walia, Singh, Marwaha, Bhusnurmath, & Dilawari, ). Individuals with untreated WD usually present with hepatic or neurologic disorders, whereas acute liver failure (ALF) and even death may occur in severe cases (Hou, Dick, Zeng, & Brewer, ; Socha et al, ; Zeng, Hou, Dick, & Brewer, ).…”

Section: Introductionmentioning

confidence: 99%

Clinical features and mutational analysis in 114 young children with Wilson disease from South China

Lin

et al. 2019

American J of Med Genetics Pt A

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Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. Clinical features and mutational analysis of Chinese children with WD at early age were rarely described. Herein, we retrospectively examined 114 children with WD at the mean of 5.9 years old age at diagnosis. Eight patients developed acute liver failure at mean age of 9.7 years old, 4 of whom died. Among the 114 patients, 86.0%were presymptomatic with isolated elevation of transaminases at diagnosis, 99.1% had decreased ceruloplasmin, and 68.4% had urinary copper excretion over 100 μg/24 hr.Bi-allele pathogenic ATP7B mutations were identified in all patients. Among the 60 mutations detected, 10 were novel, including 7 missense mutations (p.I566N, p.

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Section: Introductionmentioning

confidence: 99%

Clinical features and mutational analysis in 114 young children with Wilson disease from South China

Lin

et al. 2019

American J of Med Genetics Pt A

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“…and acute liver failure, have been reported in a 3-year-old girl and a 5.5-year-old boy, respectively. 36,37 Our patient presented with established end-stage liver disease, cirrhosis, and HCC. The incidence of copper-related hepatic neoplasm is low, but recognized in WD-affected adults.…”

Section: Discussionmentioning

confidence: 97%

Beneath the Copper—Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review

2015

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Primary hepatic malignancies are uncommon in pediatrics. Tumors such as hepatocellular carcinoma (HCC) develop typically in the setting of chronic liver disease. The incidence of HCC in Wilson's disease-related cirrhosis is disproportionately lower than in many other forms of end-stage liver disease. A preadolescent girl presented with Wilson's disease cirrhosis and a HCC requiring orthotopic liver transplantation. This case highlights the need to consider hepatic malignancies even in young Wilson's disease patients. Pediatric Wilson's disease and the hepatic tumor literature are reviewed.

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“…61 Others have described micronodular cirrhosis in a 3-year-old and ALF occurring in children as young as 5 years of age. 46,69,70 Therefore, testing should be performed at 2 years of age unless any signs or stigmata of liver disease are found earlier. Repeat clinical and biochemical testing is recommended in 2 to 3 years if the results are normal.…”

Section: Family Counselingmentioning

confidence: 99%

Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment

2011

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Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment.

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Fulminant hepatic failure and acute intravascular haemolysis as presenting manifestations of Wilson's disease in young children

Cited by 15 publications

References 14 publications

Clinical features and mutational analysis in 114 young children with Wilson disease from South China

Clinical features and mutational analysis in 114 young children with Wilson disease from South China

Beneath the Copper—Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review

Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment

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