Fulminant Wilson???s disease in children: Appraisal of a critical diagnosis

Tissières, Pierre; Chevret, L.; Debray, Dominique; Devictor, Denis

doi:10.1097/01.pcc.0000074268.77622.de

Cited by 47 publications

(21 citation statements)

References 29 publications

(32 reference statements)

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“…Furthermore, the finding of a ratio of alkaline phosphatase concentration to total bilirubin concentration of <2 was identified by Berman et al [4] in 1991 as providing 100% sensitivity and specificity for fulminant Wilson's disease (present in this patient on day 4—see Table 1 and Figure 1). The validity of this index has not been confirmed by other studies [5]. …”

Section: Discussionmentioning

confidence: 65%

Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Hilal

Morehead

2014

Case Reports in Medicine

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New-onset jaundice can be a manifestation of multiple pathologic processes including hemolysis, parenchymal liver disease, and cholestasis; the differential diagnosis is broad and requires a systematic approach. We report a case of a patient who presented with jaundice after starting minocycline for the treatment of acne vulgaris and rapidly developed fulminant liver failure found to be due to Wilson's disease. She also manifested severe Coomb's negative hemolytic anemia and renal failure secondary to hepatorenal syndrome. As a bridge to liver transplant, she was successfully treated with plasmapheresis to decrease serum copper in addition to hemodialysis for acidosis and hyperkalemia. She was able to receive a liver and made a full recovery. The case highlights the use of plasmapheresis as an adjunctive treatment modality in cases of fulminant liver failure due to Wilson's disease.

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Section: Discussionmentioning

confidence: 65%

Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Hilal

Morehead

2014

Case Reports in Medicine

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“…La edad media fue de 972 años (rango, [6][7][8][9][10][11][12][13][14][15]. Todos tuvieron valores bajos de ceruloplasmina sérica, con una media de 24720 U/l (rango, 0-56).…”

Section: Resultsunclassified

Enfermedad de Wilson: experiencia pediátrica en Costa Rica

Jiménez

Cambronero

Morales

et al. 2009

Gastroenterología y Hepatología

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“…1888 More recently, in children with Wilsonian hepatic failure, this ratio was <2 IU/µmol; it distinguished paediatric Wilson disease patients from those with acute liver failure from other causes. 1889 A further refinement for adults consists of ALP/total bilirubin (TB) ratio of <4 and AST/ALT ratio of <2.2; together, these ratios can be effective for making the diagnosis Correlation of phenotype with specific mutations (genotype) is difficult in Wilson disease because the vast majority of affected individuals are compound heterozygotes, possessing one copy each of two different mutations. In general, mutations which abrogate production of an intact functional Wilson ATPase protein cause more severe disease, with an earlier and typically hepatic presentation.…”

Section: Wilson Disease (Hepatolenticular Degeneration)mentioning

confidence: 99%

Developmental and Inherited Liver Disease

Quaglia¹,

Roberts²,

Torbenson³

2018

Macsween's Pathology of the Liver

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Diagnostic approach to histology 113 Neonatal and early infantile liver disease 113 Postneonatal, childhood and adulthood presentation 118 Neonatal hepatitis 119 Histopathological features 120 Biliary atresia 121 Classification and aetiopathogenesis 121 Pathological features at surgical intervention 124 Pathology of intrahepatic changes 126 Paucity of intrahepatic bile ducts 129 Alagille syndrome (arteriohepatic dysplasia) 129 Nonsyndromic duct paucity disorders 131 Bile duct anomalies, congenital dilations and ductal plate malformation disorders 131 Choledochal cyst 132 Hereditary fibropolycystic disease (ductal plate malformation) 133 Cystic fibrosis 141 Hereditary disorders of bile acid synthesis and bilirubin metabolism 143 Primary disorders of bile acid synthesis 143 Disorders of bile canalicular transporters 146 Other diseases causing intrahepatic cholestasis 150 Hereditary defects of bilirubin metabolism 151 Disorders of porphyrin metabolism 153 Porphyria cutanea tarda 154 Erythropoietic protoporphyria 155 Disorders of carbohydrate metabolism and related conditions 156 Glycogen storage diseases (glycogenoses) 156 Myoclonus epilepsy, Lafora type (Lafora disease) 161 Galactosaemia Hereditary fructose intolerance Disorders of glycoprotein and glycolipid metabolism Mucopolysaccharidoses Aspartylglucosaminuria α-Mannosidosis Fucosidosis Mucolipidoses Congenital disorders of glycosylation (carbohydrate-deficient glycoprotein syndrome) Endoplasmic reticulum storage diseases α1-Antitrypsin deficiency α1-Antichymotrypsin deficiency Afibrinogenaemia and hypofibrinogenaemia Antithrombin III deficiency Disorders of amino acid metabolism Hereditary tyrosinaemia type 1 Congenital hyperammonaemia syndromes and urea cycle disorders Cystinosis Homocystinuria (cystathionine β-synthase deficiency) Disorders of lipoprotein and lipid metabolism Abetalipoproteinaemia Familial hypobetalipoproteinaemia Familial high-density lipoprotein deficiency (Tangier disease) Familial hypercholesterolaemia Wolman disease and cholesteryl ester storage disease Gangliosidoses α-Galactosidase A deficiency (Fabry disease) Sulphatide lipidosis (metachromatic leucodystrophy) Chapter 3 Developmental and Inherited Liver Disease

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Fulminant Wilson???s disease in children: Appraisal of a critical diagnosis

Abstract: Although requiring prospective study to confirm, Kayser-Fleischer rings and serum alkaline phosphatase to total bilirubin ratio may assist in the early diagnosis of fulminant Wilson's disease.

Cited by 47 publications

References 29 publications

Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

Enfermedad de Wilson: experiencia pediátrica en Costa Rica

Developmental and Inherited Liver Disease

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