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Judit Várkonyi

Publications and source records attributed to Judit Várkonyi.

9 recordsLinked to original sources
PubMed2006

The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome.

The clinical experience of the significant difference in iron metabolism between multiple myeloma and myelodysplasia prompted us to analyse patients according to mutation frequency in the hemochromatosis gene (HFE) known to participate in the regulation of iron metabolism. HFE genotyping results were also evaluated in view of the clinical data in multiple myeloma (MM) patients. 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP. Data of serum iron, transferrin saturation, consumed blood units and initial white blood cell counts (WBC) were analysed in relation to the HFE genotype status. 30 out of the 61 MDS patients (49%) and only 9 out of the 49 MM patients (20%) were positive for either HFE variant. Serum iron and transferrin saturation levels were all normal in MM and elevated in MDS patients. The initial WBC were significantly lower in the minority of MM patients who were at the same time heterozygous for the HFE gene variants. We found significant differences in the frequencies of the HFE genetic variants between MDS and MM patients with strong correlation to their iron metabolism. The low WBC in HFE positive MM patients unrelated to bone marrow infiltration rate might raise the suspicion of co-existent myelodysplasia.

Aged↗
PubMed2006

[Churg-Strauss syndrome complicated by polyneuropathy].

Apart from some inherited forms, polyneuropathy is a disorder secondary to systemic diseases. The symptoms of chronic polyneuropathy usually appear some years after the main disease has been diagnosed. However, the acute-subacute form can be the first manifestation of a systemic disease, when its typical clinical features are still absent. The diagnosis of polyneuropathy is based on clinical symptoms and electrophysiologic studies, and it also could be supported by spinal fluid examination and peripheral nerve biopsy. The authors report here a case presenting as Churg-Strauss syndrome complicated with subacute axonal polyneuropathy and eosinophilia characteristic of the disease. Although Churg-Strauss syndrome is rare, it is important to recognise it, because remission depends on immunosuppressive therapy introduced in the early stage.

Churg-Strauss Syndrome↗
PubMed2006

New aspects of copper and iron metabolism in the myelodysplastic syndromes.

BACKGROUND: Myelodysplastic syndrome (MDS) is an iron overload condition. Copper deficiency itself might induce dysplastic changes and iron overload. The relationship between the iron and copper metabolism is analyzed in MDS patients. METHODS: Copper, iron and ceruloplasmin levels were established, and transferrin saturation determination and HFE mutation analysis were performed in 32 MDS patients. RESULTS: Eleven of 32 MDS patients were copper deficient. A decreased copper level occurred together with a significantly elevated iron level and transferrin saturation and in 45% HFE gene mutation. In the normal copper group, twice as many patients had a decreased rather than an elevated iron content and carried the wild-type HFE gene rather than the mutant. CONCLUSIONS: Copper deficiency is a frequent finding in MDS. It is desirable to include copper level determination in the initial workup of MDS.

Adult↗
PubMed2003

Gaucher disease associated with parkinsonism: four further case reports.

Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or alpha-synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology.

Alleles↗
PubMed2003

High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients.

Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote. The difference between the HFE-positive and HFE-negative MDS patients as regards initial serum iron and transferrin saturation was not significant. Inevitably the iron overload syndrome eventually develops in MDS patients due to intrinsic characteristics of the disease as well as an escalating need for blood transfusion therapy in the course of the disease. The high incidence rate of HFE gene mutations among MDS patients may also contribute to this vicious circle.

Adult↗
PubMed2002

[Risk of cancer and malignant transformation in hematology practice].

The cancer-morbidity growing year by year is in the focus of investigations all over the world. Beyond inherited factors this could be related to the environmental harm posed to men day by day. In this study questions will be discussed especially concerning carcinogenicity of cytostatic therapy being paradoxically a part of this process. The newly recognised relation between the hemochromatosis gene mutation and myelodysplasia opens new avenues in the understanding process of the pathomechanism of myelodysplastic syndromes. Deliberation tissues from iron of oxidative potential may reduce transfusion need and postpone blastic transformation. The aim of the study is to call for attention on the group of multiple myeloma patients and their first degree relatives having high risk for cancer emphasizing the importance of their follow up.

Antineoplastic Agents↗
PubMed2002

Gaucher disease type I complicated with Parkinson's syndrome.

Gaucher disease type I is the so-called non-neuronal adult form of the autosomally inherited lysosomal storage disease. The simultaneous occurrence of Gaucher disease with Parkinson's syndrome has been reported to aggravate both disorders, leading to an unusually early onset and therapy resistance. Neurological alterations in Gaucher disease type I are mostly related to CNS bleeding and skeletal complications. The patient presented here was sensitive to combination therapy for 5 years.

Age of Onset↗
PubMed1997

Polychondritis Terminating in Eosinophilic Leukemia.

We report here on a patient presenting with Relapsing Polychondritis (RP) two years before the diagnosis of Myelodysplasia (MDS) terminating in Eosinophilic Leukemia (EoL). The evolution of RP several etiology of RP in this patient. The terminal development of EoL in our case is assumed to represent clonal evolution caused by a second mutagenic event. The existence of autoimmune skin disorders in both the patient and his offspring (vitiligo and subacute cutaneous lupus erythematosus, respectively) implies that the coexistence of MDS and RP may have been caused by a functional disturbance of the immune system.

Journal Article↗