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3 results on '"Ma Dolores de Juan"'

1. Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country

Author

Agustin Castiella, Eva Zapata, Leire Zubiaurre, Jose Ma. Alustiza, Ma. Dolores De Juan, Arantxa Iribarren, Jose I. Emparanza, and Pedro Otazua

Subjects
Hyperferritinemia, HFE gene, Hemochromatosis, MRI, Metabolic syndrome, Specialties of internal medicine, RC581-951
Abstract

Background and Aims. There are limited data on clinical and phenotypic characteristics of outpatients referred for hyperferritinemia (HF). To determine the causes of HF in outpatients referred to a secondary hospital.Material and methods. A prospective study of 132 consecutive patients with HF (> 200 μg/L, women; > 300 μg/L, men) was conducted from January-December 2010.Results. Mean age, 54.42 years (SD: 13.47, range: 23-83); body mass index (BMI), 28.80 (SD: 3.96, 17-39); ferritin (SF), 579.54 ng/mL (SD: 296.575, 206-1668); transferrin saturation (TSI), 43.87% (SD: 14.09, 12-95); iron (Fe), 134 μg/dL (SD: 49.68, 55-322); overweight: 48.31%, and obese: 40.44% (89%), and most patients were men (108/132). Regarding HFE mutations, H63D/H63D genotype and H63D allele frequencies were 17.5% (vs. 7.76% in controls); and 36% (31% in controls) respectively. While 63.6% consumed no alcohol, 18.1% consumed ≥ 60 g/day, the mean being 20.83 (SD: 33.95, 0-140). Overall, 6/132 (4.5%) patients were positive for B or C hepatitis. Mean LIC by MRI was 36.04 (SD: 32.78, 5-210), 53 patients having normal concentrations (< 36 µmol/g), 22 (33%) iron overload (37-80), and 4 (5%) high iron overload (> 80). Metabolic syndrome (MS) was detected in 44/80 men (55%) and 10/17 women (59%). In this group, the genotype frequency of the H63D/H63D mutation was significantly higher than in controls-21.56% vs. 7.76%- (p = 0.011); the H63D allelic frequency was 42.15% in MS group and 31% in controls (p = 0.027).Conclusion. The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.

Published
2015
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2. Prediction of liver iron overload in the Basque country (Spain) in patients referred for hyperferritinemia

Author

Agustin Castiella, Iratxe Urreta, Eva Zapata, José M. Alústiza, Ma Dolores de Juan, José I. Emparanza, Leire Zubiaurre, Agustín Castiella, Arantxa Iribarren, Usua Mendarte, Luis Bujanda, Nerea Muro, Begoña Ibarra, M. Dolores de Juan, Emma Salvador, Pedro Otazua, Aitor de Juan, Garazi Letamendi, Beatriz Arrizabalaga, and Maria Luisa Rincón

Subjects
Male, medicine.medical_specialty, Iron Overload, Hepatology, medicine.diagnostic_test, biology, business.industry, Gastroenterology, MEDLINE, Magnetic resonance imaging, Ferritin, Liver, Spain, Internal medicine, biology.protein, Medicine, Liver iron, Humans, In patient, Female, Hyperferritinemia, Prospective Studies, business, Hemochromatosis Protein
Published
2020

3. Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country

Author

Jose I. Emparanza, Arantxa Iribarren, José Mª Alústiza, Leire Zubiaurre, Ma. Dolores De Juan, Pedro Otazua, Eva Zapata, and Agustin Castiella

Subjects
Male, Pediatrics, DNA Mutational Analysis, Specialties of internal medicine, Gastroenterology, Gene Frequency, Outpatients, Genotype, Prospective Studies, Prospective cohort study, Aged, 80 and over, biology, Incidence, General Medicine, Middle Aged, Magnetic Resonance Imaging, Metabolic syndrome, RC581-951, Female, Hemochromatosis, HFE gene, MRI, Adult, medicine.medical_specialty, Young Adult, Internal medicine, medicine, Humans, Hemochromatosis Protein, Secondary Care Centers, Allele frequency, Aged, Hepatology, Transferrin saturation, business.industry, Histocompatibility Antigens Class I, Membrane Proteins, nutritional and metabolic diseases, DNA, medicine.disease, Genotype frequency, Ferritin, Spain, Ferritins, Mutation, biology.protein, Hyperferritinemia, business, Body mass index
Abstract

Background and Aims. There are limited data on clinical and phenotypic characteristics of outpatients referred for hyperferritinemia (HF). To determine the causes of HF in outpatients referred to a secondary hospital.Material and methods. A prospective study of 132 consecutive patients with HF (> 200 μg/L, women; > 300 μg/L, men) was conducted from January-December 2010.Results. Mean age, 54.42 years (SD: 13.47, range: 23-83); body mass index (BMI), 28.80 (SD: 3.96, 17-39); ferritin (SF), 579.54 ng/mL (SD: 296.575, 206-1668); transferrin saturation (TSI), 43.87% (SD: 14.09, 12-95); iron (Fe), 134 μg/dL (SD: 49.68, 55-322); overweight: 48.31%, and obese: 40.44% (89%), and most patients were men (108/132). Regarding HFE mutations, H63D/H63D genotype and H63D allele frequencies were 17.5% (vs. 7.76% in controls); and 36% (31% in controls) respectively. While 63.6% consumed no alcohol, 18.1% consumed ≥ 60 g/day, the mean being 20.83 (SD: 33.95, 0-140). Overall, 6/132 (4.5%) patients were positive for B or C hepatitis. Mean LIC by MRI was 36.04 (SD: 32.78, 5-210), 53 patients having normal concentrations (< 36 µmol/g), 22 (33%) iron overload (37-80), and 4 (5%) high iron overload (> 80). Metabolic syndrome (MS) was detected in 44/80 men (55%) and 10/17 women (59%). In this group, the genotype frequency of the H63D/H63D mutation was significantly higher than in controls-21.56% vs. 7.76%- (p = 0.011); the H63D allelic frequency was 42.15% in MS group and 31% in controls (p = 0.027).Conclusion. The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.

Published
2015

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