Trientine increases fecal copper excretion in Wilson's disease: A case report

2001 ◽  
Vol 14 (4) ◽  
pp. 405-407
Author(s):  
Shozo Ishikawa ◽  
Shozo Nomoto ◽  
Kunihiro Yoshida ◽  
Takahiko Tokuda ◽  
Shu-ichi Ikeda
Keyword(s):  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Copper Excretion

scholarly journals Immunoglobulin A nephropathy secondary to Wilson’s disease: a case report and literature review

2018 ◽  
Vol 8 (1) ◽  
pp. 61-66
Author(s):  
Yoshinosuke Shimamura ◽  
Takuto Maeda ◽  
Yufu Gocho ◽  
Yayoi Ogawa ◽  
Kunihiko Tsuji ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Wilson’S Disease ◽  
Immunoglobulin A ◽  
Wilson's Disease ◽  
Immunoglobulin A Nephropathy

A case report of Wilson’s disease

1966 ◽  
Vol 1 (1) ◽  
pp. 54-54
Author(s):  
H. Takasaki ◽  
S. Murata ◽  
K. Saiki ◽  
Y. Kosaka ◽  
N. Ikeda ◽  
...  
Keyword(s):  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease

scholarly journals Wilson’s Disease - A Case Report

2019 ◽  
Vol 6 (7) ◽  
Author(s):  
Harharpreet Kaur ◽  
Kiranjit Kaur ◽  
Navneet Sharma ◽  
Kiran Kumar
Keyword(s):  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease

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.

Wilson's disease, a reversible dementia: Case report

1987 ◽  
Vol 9 (4) ◽  
pp. 399-406 ◽  
Author(s):  
Monica Rosselli ◽  
Pablo Lorenzana ◽  
Andres Rosselli ◽  
Ignacio Vergara
Keyword(s):  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Dementia Case

Successful Pregnancy in Wilson’s Disease: A Case Report and Review of the Literature

1985 ◽  
Vol 24 (5) ◽  
pp. 306-309 ◽  
Author(s):  
José Biller ◽  
Michael Swiontoniowski ◽  
Paul W. Brazis
Keyword(s):  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Review Of The Literature ◽  
Successful Pregnancy

Stomatocytosis Heralding a Case of Acute Wilsonian Crisis: Case Report and Review of the Literature.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 5090-5090
Author(s):  
Amit R. Mehta ◽  
Gratian Salaru ◽  
Jonathan Harrison
Keyword(s):  
Liver Transplantation ◽  
Case Report ◽  
Hemolytic Anemia ◽  
Wilson’S Disease ◽  
Total Bilirubin ◽  
Conflicts Of Interest ◽  
Wilson's Disease ◽  
Direct Bilirubin ◽  
Clinical Scenarios ◽  
New Onset

Abstract Abstract 5090 Introduction The evaluation of a patient with new onset hemolytic anemia is among the more common clinical scenarios prompting formal input by a hematologist. Although there are both common and uncommon etiologies, the presentation of Wilson's Disease, itself an uncommon disorder, as a fulminant hemolytic anemia, is very uncommon, and for this reason may not be readily considered within the differential diagnosis of new onset hemolytic anemia. Wilson's Disease occurs worldwide with an average prevalence of only 30 affected individuals per million population. In order to illustrate hemolytic anemia as an initial presentation of Wilson's Disease, a case is reported. Case Report A 28-year-old female patient presented with a recent diarrheal infection and new onset jaundice. Examination revealed an afebrile patient with gross jaundice, but no other abnormal findings. Initial significant laboratory findings included a hemoglobin of 7.1 gm/dL, white blood cell count of 30,900 per microliter, platelet count of 181,000 per microliter, creatinine of 2 mg/dL, and total bilirubin of approximately 10 mg/dL. Within two days, laboratory studies worsened to a serum creatinine of 3.5 mg/dL, total bilirubin 19.5 mg/dL, direct bilirubin 13.1 mg/dL, AST 130 IU/L, ALT 16 IU/L, and alkaline phosphatase < 5 IU/L. The serum LDH was markedly elevated at 1258 IU/L. Review of the peripheral blood film showed 87% segmented neutrophils with no schistocytosis. However, a striking stomatocytosis was present, comprising about 20% of the red blood cells (see Figure 1). In the next two days, the clinical condition dramatically worsened. The hemoglobin dropped to 4.4 gm/dL, and the prothrombin time increased from within normal limits to 52.7 seconds. Disseminated intravascular coagulation was not present. Haptoglobin and LDH remained consistent with a brisk intravascular hemolysis, and Coombs testing was negative. In addition, the total bilirubin rose to 52.5 mg/dL, with a direct bilirubin of 38.7 mg/dL. The patient's sensorium was becoming gradually impaired, consistent with a hepatic encephalopathy. Based on this constellation of findings, the possibility of a fulminant manifestation of Wilson's Disease, featuring severe hemolysis, was identified (see Table 1). This led to definitive testing for Wilson's Disease, which included a liver biopsy with qualitative and quantitative measurements for copper (copper dry weight = 966.7 micrograms/gm). With the diagnosis established, and using support from published literature, daily plasmapheresis was utilized to stabilize the patient in anticipation of orthotopic liver transplantation (Jhang JS et al. Journal of Clinical Apheresis 22(1):10-14, 2007). Subsequently, the patient was successfully transplanted, and continues to do well three months afterwards. Conclusion The present case highlights the value of understanding the possible etiologies of stomatocytosis, as observed in the peripheral smear, in the setting of a hemolytic anemia (see Table 2). In addition, as illustrated by this case, plasmapheresis can be an effective bridge to stabilize patients for liver transplantation in patients with Wilson's Disease who present with fulminant hemolytic anemia. Disclosures No relevant conflicts of interest to declare.

Adverse reaction after tetrathiomolybdate treatment for Wilson's disease: A case report

2006 ◽  
Vol 21 (11) ◽  
pp. 2030-2032 ◽  
Author(s):  
Valentina Medici ◽  
Carlo Pietro Trevisan ◽  
Maria Assunta Bigotto ◽  
Renata D'Incà ◽  
Diego Martines ◽  
...  
Keyword(s):  
Adverse Reaction ◽  
Case Report ◽  
Wilson’S Disease ◽  
Wilson's Disease
Sign in / Sign up

Export Citation Format

Share Document