A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure

2000 ◽  
Vol 35 (4) ◽  
pp. 278-283 ◽  
Author(s):  
Toshihide Okada ◽  
Toshio Morise ◽  
Yasuo Takeda ◽  
Hiroshi Mabuchi
Keyword(s):  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
New Variant ◽  
Atpase Gene ◽  
P Type

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

2020 ◽  
pp. 2115-2120
Author(s):  
Michael L. Schilsky ◽  
Pramod K. Mistry
Keyword(s):  
Liver Disease ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Copper Transport ◽  
Loss Of Function ◽  
Copper Excretion ◽  
P Type

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described, each with distinct phenotypes. Wilson’s disease—an uncommon disorder (1 in 30 000) caused by autosomal recessive loss-of-function mutations in a metal-transporting P-type ATPase (ATP7B) that result in defective copper excretion into bile and hence copper toxicity. Typical presentation is in the second and third decade of life with liver disease (ranging from asymptomatic to acute fulminant hepatic failure or chronic end-stage liver disease) or neurological or psychiatric disorder (dystonia, dysarthria, parkinsonian tremor, movement disorder, a spectrum of psychiatric ailments). While no single biochemical test or clinical finding is sufficient for establishing the diagnosis, typical findings include low serum ceruloplasmin, high urinary copper excretion, and elevated liver copper content. Corneal Kayser–Fleischer rings may be seen. Treatment is with copper chelating agents and zinc. Liver transplantation is required for fulminant hepatic failure and decompensated liver disease unresponsive to medical therapy. Menkes’ disease—a rare disorder (1 in 300 000) caused by X-linked loss-of-function mutations in a P-type ATPase homologous to ATP7B (ATP7A) that result in defective copper transport across intestine, placenta, and brain and hence cellular copper deficiency. Clinical presentation is in infancy with facial dimorphism, connective tissue disorder, hypopigmentation, abnormal hair, seizures, and failure to thrive, usually followed by death by age 3 years (although some variants with a milder phenotype result from milder mutations, e.g. occipital horn syndrome). Treatment, which is only effective when presymptomatic diagnosis is made in a sibling after florid presentation in a previous affected sibling, is with intravenous copper histidine.

scholarly journals Diagnosis of Wilson's Disease Presenting as Fulminant Hepatic Failure

1983 ◽  
Vol 84 (1) ◽  
pp. 161-167 ◽  
Author(s):  
Arthur J. Mccullough ◽  
C. Richard Fleming ◽  
Johnson L. Thistle ◽  
William P. Baldus ◽  
Jurgen Ludwig ◽  
...  
Keyword(s):  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Wilson's Disease

Fulminant hepatic failure during perinatal period in a pregnant woman with Wilson’s disease

1991 ◽  
Vol 26 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Nobuyuki Shimono ◽  
Hiromi Ishibashi ◽  
Hideyuki Ikematsu ◽  
Jiro Kudo ◽  
Masafumi Shirahama ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Perinatal Period ◽  
Wilson's Disease

High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease

2010 ◽  
Vol 45 (10) ◽  
pp. 1232-1237 ◽  
Author(s):  
Toshihide Okada ◽  
Yuta Shiono ◽  
Yoshibumi Kaneko ◽  
Kazuhiro Miwa ◽  
Kenkei Hasatani ◽  
...  
Keyword(s):  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
High Prevalence
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