[Treatment of haemochromatosis].
Explore the source record for details and available documents.
Algorithms↗
Biomedical subjects
Margit Abonyi
Publications and source records attributed to Margit Abonyi.
[Wilson disease].
Wilson disease is an autosomal, recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion of hepatocytes. Recently, novel components involved in copper metabolism, Wilson disease protein (ATP7B) and copper chaperones, have been identified. It has been demonstrated that ATP7B functions in copper secretion into the plasma, coupled with coeruloplasmin synthesis and biliary copper excretion. Genetic testing may help early diagnosis and with the beginning of therapy the development of symptoms can be prevented. Various mutations of ATP7B have been identified, the most common is in Hungary, the H1069Q mutation. Genetic screening should only be advised if there is a predominant mutation characteristic for the geographic area. The authors discuss the modern diagnostic and therapeutic possibilities of Wilson disease.
Adenosine Triphosphatases↗
[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
ATP7B gene mutations were examined in 70 Wilson patients from Hungary. 11 different mutations were found. In Hungary, similarly to other Central-Eastern European countries, the H1069Q was the most the frequent mutation, detected in 51 patients (73%) by semi-nested polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) assay. 10 further mutations have been found by sequencing as follows: P767P-fs, R778G, K844K-fs, I857T, R969Q, T977M, E1064K, M769L, Y715H and P1273S. These latter three mutations have not been described before. Among the 11 mutations there are five, which have been published only in patients of Turkish, Italian or Albanian origin. It might be the genetic consequence of the 150 years long occupation of Hungary in the 16th and 17th century by Turks. The genotype-phenotype analysis showed that the Kayser-Fleischer ring was more frequent (10/12 = 83%), and the age at the diagnosis was higher in H1069Q homozygous patients than in compound heterozygous or negative patients. Diverse clinical presentation of the disease was demonstrated by case reports giving messages for the practitioners. The gene mutation analysis is of particular importance in siblings of the index patient, since the detection of two mutant allels confirm the diagnosis of the disease even in absence of symptoms. The clinical manifestation of the disease can be preceded by the treatment.
Adenosine Triphosphatases↗
[Gene therapy in liver diseases].
The basic principles of gene therapy, ex vivo and in vivo gene transfers and various vectors have been reviewed first in the paper. Then the models for clinical application are shown, including the recent results of experimental studies, with special regard to the treatment of liver diseases and amongst them hepatocellular carcinoma. Gene therapy is still in preclinical stage. Due to the ongoing intensive genetic studies and if the existing problems being resolved in this field, we can predict that the early years of this millennium gene therapy will be a useful modality in the clinical hepatology as well.
Animals↗