Hemolytic crisis with fulminant hepatic failure in Wilson disease without consanguinity

Kitazawa, Junichi; Kaizuka, Michiko; Kasai, Mikio; Noda, Yasuko; Takahashi, Yoshihiro; Terui, Kiminori; Narumi, Shunji; Hakamada, Kenichi; Sasaki, Mutsuo; Kamata, Yoshimasa; Endo, Tokiko; Saikai, Toyohiro; Mizoguchi, Yoshikazu; Kinebuchi, Miyuki; Ito, Etsuro; Matsuura, Akihiro

doi:10.1111/j.1442-200x.2004.01993.x

Cited by 10 publications

(6 citation statements)

References 14 publications

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“…Biochemical features of Wilson's disease include evidence of hemolysis, markedly elevated serum bilirubin, and a normal or low serum alkaline phosphatase. [93][94][95] Other Causes Neonatal hemochromatosis presents in the first few days to weeks of life with a profound coagulopathy with normal aminotransferase levels, ascites, and multiorgan failure associated with the accumulation of iron into extrahepatic tissues that include the pancreas and heart. The nomenclature surrounding this condition is confusing as it has no relationship to hemochromatosis diagnoses in adults.…”

Section: Metabolicmentioning

confidence: 99%

Acute Liver Failure in Children

2008

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Acute liver failure (ALF) in children differs from that observed in adults in both the etiologic spectrum and the clinical picture. Children, particularly very young ones, do not demonstrate classical features of encephalopathy and the definition of ALF has been revised to include patients with advanced coagulopathy, regardless of mental status. A significant number of these children will go on to require transplant or die. Etiologies vary by age with metabolic and infectious diseases prominent in the first year of life and acetaminophen overdose and Wilson's disease occurring in adolescents. In almost 50% of cases, however, the child has an indeterminate cause for ALF. Management requires a multidisciplinary approach and is directed at establishing the etiology where possible and monitoring, anticipating, and managing the multisystem complications that occur in children with ALF. Overall, short-term outcomes are better in children than adults but are dependent upon the degree of encephalopathy and diagnosis.

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Section: Metabolicmentioning

confidence: 99%

Acute Liver Failure in Children

2008

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“…Hemolytic onset was not present in these two other cases, and from this point of view it is hypothesized that hematological manifestations could appear when either decompensated liver cirrhosis, as described in our previous report [10], or fulminant hepatic failure occurs, as reported in the literature [16][17][18][19].…”

Section: Discussionmentioning

confidence: 86%

Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic Onset

et al. 2007

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Wilson disease, an autosomal recessive disorder due to mutations of the ATP7B gene, is characterized by copper accumulation and toxicity in the liver and subsequently in other organs, mainly the brain and cornea. A new missense mutation (T1288R) of the ATP7B gene has recently been discovered in a Wilson disease patient in our laboratory. The aim of the present study was to analyze clinical and genetic features of more generations of the family of the patient in which the new mutation T1288R was discovered. A total of 19 subjects were studied; in particular, four generations of the patient's family were analyzed. The ATP7B gene was analyzed by single-strand conformational polymorphism followed by direct sequencing. Two brothers presented a clinical diagnosis of Wilson disease with an hepatic phenotype and a genotype characterized by the homozygotic mutation T1288R. The heterozygotic mutation T1288R was found in seven subjects belonging to all four generations. The present study represents the first screening for a Wilson disease mutation through four generations of a nonconsanguineous family. All the patients with the homozygotic T1288R mutation in the present pedigree presented an hepatic phenotype without a neurological presentation. Consequently, a genotype-phenotype correlation could be hypothesized, although further studies are necessary to clarify this topic.

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“…Most studies have not carefully examined the relationship between copper removal by plasmapheresis and clinical efficacy [15][16][17][18][19]. Few others have reported that a significant amount of copper can be eliminated through the use of plasma exchange with clinical improvement [20][21][22].…”

Section: Discussionmentioning

confidence: 99%

Therapeutic plasmapheresis as a bridge to liver transplantation in fulminant Wilson disease

Jhang

Schilsky

Lefkowitch

et al. 2007

J of Clinical Apheresis

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Wilson disease is an autosomal recessive disorder of copper metabolism that leads to the accumulation of copper mainly in the liver, cornea, brain, and kidney. Rarely, Wilson disease can present as fulminant hepatic failure with direct antiglobulin test-negative hemolytic anemia and renal failure. In the absence of liver transplantation, this disease is uniformly fatal because medical therapy is ineffective. This report describes the successful use of plasmapheresis for a patient with fulminant Wilson disease as a bridge to transplantation. Five daily therapeutic plasmapheresis procedures using fresh frozen plasma as a replacement fluid were performed over 6 days. Serum copper, urinary copper excretion, and hemolysis were significantly reduced and renal function improved. The patient's clinical status improved and she remained clinically stable until a liver transplant was possible. Plasmapheresis can be a successful medical treatment in fulminant Wilson disease and should be considered as a therapeutic measure to stabilize a patient by decreasing serum copper, reducing hemolysis, and helping to prevent renal tubular injury from copper and copper complexes until liver transplantation is possible.

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Hemolytic crisis with fulminant hepatic failure in Wilson disease without consanguinity

Cited by 10 publications

References 14 publications

Acute Liver Failure in Children

Acute Liver Failure in Children

Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic Onset

Therapeutic plasmapheresis as a bridge to liver transplantation in fulminant Wilson disease

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