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1.
Semergen ; 47(7): 441-447, 2021 Oct.
Article in Spanish | MEDLINE | ID: mdl-34479794

ABSTRACT

INTRODUCTION: Based on risk factors, the Mayo Clinic Multiple Myeloma Group (MCMMG) established a model of progression from monoclonal gammopathy of undetermined significance (MGUS) to multiple myeloma (MM) at 20 years. It is also described that MGUS with a progressive increase of monoclonal protein (M-protein) and/or immunoparesis (IMP) may be more predisposed to progress to myeloma. Our objective was to make a review of MGUS, to see how those who presented IMP and/or progression of their M-protein, contrasting them with MGUS that presented intermediate/high and high risk according to MCMMG. METHODOLOGY AND MATERIALS: A review of the MGUS objectified during the realization of a serum proteinogram (SPEP) was carried out during 2010-2014, in our area. Serum immunoglobulins, serum immunofixation (IFs), and serum free light chain ratio (FLCr) were determined for all MGUS. RESULTS: Of the 153 MGUS that are followed up for 4 years, 6 progress to MM. Of these 6 MM, 5 progress from MGUS with intermediate/high risk taking into account the MCMMG. Of these 5, 3 have IMP or progression of their M-protein. 2 present IMP plus progression of their M-protein. The sixth MM evolves from a MGUS without any risk factor, but with progression of its M-protein plus IMP. CONCLUSIONS: IMP and/or M-protein progression are important risk factors to be taken into account in the MGUS, in the first years after diagnosis, due to their possible evolution to MM.


Subject(s)
Monoclonal Gammopathy of Undetermined Significance , Multiple Myeloma , Paraproteinemias , Disease Progression , Humans , Immunoglobulin Light Chains , Monoclonal Gammopathy of Undetermined Significance/diagnosis , Monoclonal Gammopathy of Undetermined Significance/epidemiology , Multiple Myeloma/diagnosis , Multiple Myeloma/epidemiology
2.
Rev Esp Enferm Dig ; 105(8): 469-76, 2013 Sep.
Article in English | MEDLINE | ID: mdl-24274444

ABSTRACT

BACKGROUND AND OBJECTIVES: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category. METHODS: we classified 350 celiac patients at time of diagnosis and 218 controls into 14 categories according to their HLA genotype, based on the presence or absence of risk alleles. RESULTS: we found statistically significant differences between the genotype frequencies of celiac patients diagnosed as being children and adults. DQA1*05 (x 1 copy), DQB1*02 (x 1 copy), DQB1*0302 (x 0 copies) was the most frequent genotype in individuals diagnosed in childhood, whereas DQA1*05 (x 1 copy), DQB1*02 (x 2 copies), DQB1*0302 (x 0 copies) was the most frequent in adults. The risk for disease in each genotypic category in celiac children and adults turned out to be different. The presence of DQB1*0302 did not increase risk in children, but did in adults. CONCLUSION: in our celiac population, we found a different genetic pattern according to age of diagnosis. That could suggest that the pathogenic mechanism of the disease is not exactly the same in both age groups, which could somehow determine clinical presentation of the disease, its epidemiology, coexisting diseases, and complications.


Subject(s)
Celiac Disease/diagnosis , Celiac Disease/genetics , HLA-DQ Antigens/genetics , Adolescent , Adult , Age of Onset , Aged , Alleles , Case-Control Studies , Celiac Disease/epidemiology , Child , Female , Genotype , Humans , Male , Middle Aged , Risk Assessment , Spain/epidemiology , Young Adult
3.
Rev. esp. enferm. dig ; 105(8): 469-476, sept. 2013. tab
Article in English | IBECS | ID: ibc-117248

ABSTRACT

Background and objectives: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category. Methods: we classified 350 celiac patients at time of diagnosis and 218 controls into 14 categories according to their HLA genotype, based on the presence or absence of risk alleles. Results: we found statistically significant differences between the genotype frequencies of celiac patients diagnosed as being children and adults. DQA1*05 (x 1 copy), DQB1*02 (x 1 copy), DQB1*0302 (x 0 copies) was the most frequent genotype in individuals diagnosed in childhood, whereas DQA1*05 (x 1 copy), DQB1*02 (x 2 copies), DQB1*0302 (x 0 copies) was the most frequent in adults. The risk for disease in each genotypic category in celiac children and adults turned out to be different. The presence of DQB1*0302 did not increase risk in children, but did in adults. Conclusion: in our celiac population, we found a different genetic pattern according to age of diagnosis. That could suggest that the pathogenic mechanism of the disease is not exactly the same in both age groups, which could somehow determine clinical presentation of the disease, its epidemiology, coexisting diseases, and complications (AU)


Subject(s)
Humans , Male , Female , Celiac Disease/complications , Celiac Disease/diagnosis , Celiac Disease/genetics , Autoimmunity/genetics , Autoimmunity/immunology , HLA Antigens/analysis , Histocompatibility Testing/methods , Retrospective Studies , Genotype
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