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1.
Transfus Apher Sci ; 58(4): 416-421, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31281092

RESUMO

Anemia in elderly (AE), though often mild, is quite common and independently associated with important clinical outcomes, including decreased quality of life, risk of falls and fractures, cognitive decline, increased length of hospital stay, and even mortality. AE is generally overlooked, and hence undertreated, especially when comorbidities distract the attention of physicians and caregivers. This also partially reflects difficulties in dissecting the cause(s) of AE, which is typically multifactorial, as well as our limited diagnostic approach often categorizing AE as apparently "unexplained". Therapeutic approaches have been traditionally limited to transfusions, or supplementation with hematinics, including group B vitamins and iron. The latter has been largely underutilized, because of missing diagnosis of iron deficiency using inappropriate laboratory thresholds, as well as complex schedule and adverse effects associated with traditional preparations. After decades of stagnation, new oral and intravenous iron preparations look promising, particularly in the elderly. Moreover, a number of innovative anti-anemic drugs, like hepcidin modulators, Hypoxia Inducible Factor (HIF) stabilizers, and activin type II receptor agonists are entering the clinical arena and may substantially improve our therapeutic armamentarium to AE in the near future.


Assuntos
Anemia , Serviços de Saúde para Idosos , Hematínicos/uso terapêutico , Distúrbios do Metabolismo do Ferro , Ferro , Administração Intravenosa , Idoso , Idoso de 80 Anos ou mais , Anemia/sangue , Anemia/tratamento farmacológico , Humanos , Ferro/deficiência , Ferro/uso terapêutico , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/tratamento farmacológico
2.
Medicina (Kaunas) ; 55(7)2019 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-31269687

RESUMO

Background and objectives: The etiology of anemia associated with heart failure is not fully understood, but there are data suggesting the involvement of multiple mechanisms, including various drug therapies used in patients with heart failure. Our primary objective was to evaluate the impact of beta blockers, angiotensin-converting enzyme inhibitors, and calcium-channel blockers on iron metabolism in patients with heart failure. Materials and Methods: This was a prospective observational study that included patients diagnosed with heart failure and iron deficiency (defined by ferritin <100 µg/L, or 100-300 µg/L with transferrin saturation <20%). Patients with anemia secondary to a known cause were excluded. Results: We found a statistically significant correlation between beta-blocker treatment and ferritin values (p = 0.02). Iron, hemoglobin, and hematocrit levels were significantly lower in the patients using calcium-channel blockers than those who were not. We also found a statistically significant indirect correlation (p = 0.04) between the use of angiotensin-converting enzyme inhibitors and hematocrit levels. Conclusion: The contribution of our study arises from the additional data regarding the drug-induced etiology of iron deficiency. Practitioners should be aware of the potential impact of therapeutic recommendations and this should imply a close monitoring of the biochemical parameters of iron deficiency in this category of patients.


Assuntos
Anemia/etiologia , Insuficiência Cardíaca/tratamento farmacológico , Distúrbios do Metabolismo do Ferro/etiologia , Antagonistas Adrenérgicos beta/efeitos adversos , Antagonistas Adrenérgicos beta/uso terapêutico , Idoso , Anemia/sangue , Anemia/complicações , Inibidores da Enzima Conversora de Angiotensina/efeitos adversos , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Bloqueadores dos Canais de Cálcio/efeitos adversos , Bloqueadores dos Canais de Cálcio/uso terapêutico , Feminino , Insuficiência Cardíaca/sangue , Humanos , Ferro/análise , Ferro/sangue , Distúrbios do Metabolismo do Ferro/sangue , Masculino , Pessoa de Meia-Idade
3.
Nutrients ; 11(5)2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31137583

RESUMO

BACKGROUND: Since haemodialysis is a lifesaving therapy, adequate control measures are necessary to evaluate its adequacy and to constantly adjust the dose to reduce hospitalisation and prolong patient survival. Malnutrition is common in haemodialysis patients and closely related to morbidity and mortality. Patients undergoing haemodialysis have a high prevalence of protein-energy malnutrition and inflammation, along with abnormal iron status. The haemodialysis dose delivered is an important predictor of patient outcome. AIM: To evaluate through haemodialysis adequacy, which parameter(s), if any, better predict Kt/V, among those used to assess nutritional status, inflammation response, and iron status. METHODS: We retrospectively studied 78 patients undergoing haemodialysis due to end-stage renal disease. As parameters of nutritional status, geriatric nutritional risk index (GNRI), transferrin levels, lymphocyte count, and albumin concentration were analysed. As signs of inflammation, C reactive protein (CRP) levels and ferritin concentrations were studied as well. Iron status was evaluated by both transferrin and ferritin levels, as well as by haemoglobin (Hb) concentration. RESULTS: The core finding of our retrospective study is that transferrin levels predict the adequacy of haemodialysis expressed as Kt/V; the latter is the only predictor (P = 0.001) when adjusting for CRP concentrations, a solid marker of inflammation, and for ferritin levels considered an iron-storage protein, but also a parameter of inflammatory response. DISCUSSION AND CONCLUSION: In keeping with the results of this study, we underline that the use of transferrin levels to assess haemodialysis quality combine into a single test the evaluation of the three most important factors of protein-energy wasting.


Assuntos
Inflamação/sangue , Distúrbios do Metabolismo do Ferro/sangue , Falência Renal Crônica/terapia , Desnutrição Proteico-Calórica/sangue , Diálise Renal , Transferrina/metabolismo , Idoso , Biomarcadores/sangue , Feminino , Avaliação Geriátrica , Humanos , Inflamação/diagnóstico , Inflamação/etiologia , Mediadores da Inflamação/sangue , Ferro/sangue , Ferro/deficiência , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/etiologia , Falência Renal Crônica/sangue , Falência Renal Crônica/diagnóstico , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Valor Preditivo dos Testes , Desnutrição Proteico-Calórica/diagnóstico , Desnutrição Proteico-Calórica/etiologia , Diálise Renal/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
4.
Acta Med Port ; 31(9): 478-482, 2018 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-30332371

RESUMO

INTRODUCTION: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome. MATERIAL AND METHODS: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. EXCLUSION CRITERIA: prior bariatric surgery; lack of ferritin or hemoglobin determinations. RESULTS: We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency. DISCUSSION: The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity. CONCLUSION: Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.


Assuntos
Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/diagnóstico , Ferro/deficiência , Síndrome Metabólica/complicações , Obesidade/complicações , Adulto , Estudos Transversais , Feminino , Ferritinas/sangue , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Masculino , Síndrome Metabólica/sangue , Obesidade/sangue , Prevalência , Estudos Retrospectivos
5.
Parkinsonism Relat Disord ; 51: 36-42, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29503155

RESUMO

INTRODUCTION: Aceruloplasminemia is an ultra-rare hereditary disorder characterized by iron-restricted microcytic anemia and tissue iron overload associated with diabetes, retinal and progressive neurological degeneration. We describe genotypes and phenotypes at diagnosis, and disease evolution of seven Italian patients. METHODS: Anagraphical, biochemical, genetic, clinical and instrumental data were collected at diagnosis and during a long-term follow-up. Mutations, ferroxidase activity and Western Blot analysis of ceruloplasmin were performed according to standard protocols. RESULTS: Three mutations were already described (p.Phe217Ser, deletions of exon 11 and 12), p.Ile991Thr is a very rare variant, p.Cys338Ser and IVS6+1G > A were novel mutations. In silico analyses suggested they were highly likely or likely to be damaging. At diagnosis, 100% had microcytosis, 86% had mild-moderate anemia, low serum iron and high serum ferritin. Four (57%) had type 1 diabetes or glucose intolerance, 3/7 had neurological manifestations, and only one had early diabetic retinopathy. All but one underwent iron chelation therapy requiring temporary discontinuation because of anemia worsening. At the end of follow-up, three patients aggravated and 2 developed neurological symptoms; only two patients were free of neurological manifestations and showed mild or absent brain iron. CONCLUSION: Aceruloplasminemia phenotypes ranged from classical characterized by progressive neurologic derangement to milder in which signs of systemic iron overload prevailed over brain iron accumulation. Within this large heterogeneity, microcytosis with or without anemia, low serum iron and high serum ferritin were the early hallmarks of the disease. Therapeutic approaches other than iron chelation should be explored to reduce morbidity and improve life expectancy.


Assuntos
Ceruloplasmina/deficiência , Progressão da Doença , Distúrbios do Metabolismo do Ferro , Doenças Neurodegenerativas , Adulto , Ceruloplasmina/genética , Terapia por Quelação , Feminino , Seguimentos , Genótipo , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/tratamento farmacológico , Distúrbios do Metabolismo do Ferro/genética , Itália , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/sangue , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/tratamento farmacológico , Doenças Neurodegenerativas/etiologia , Doenças Neurodegenerativas/genética , Fenótipo
6.
Liver Int ; 38(1): 164-173, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28679028

RESUMO

BACKGROUND AND AIMS: Elevated serum ferritin is common in NAFLD, and is associated with more advanced disease and increased mortality. Hyperferritinaemia in NAFLD is often attributed to inflammation, while in other conditions ferritin closely reflects body iron stores. The aim of this study was to clarify the underlying cause of hyperferritinaemia in NAFLD. METHODS: Ferritin levels were examined with markers of iron status, inflammation and liver injury across the clinical spectrum of NAFLD using blood, tissue and magnetic resonance (MR) imaging. A separate larger group of NAFLD patients with hepatic iron staining and quantification were used for validation. RESULTS: Serum ferritin correlated closely with the iron regulatory hormone hepcidin, and liver iron levels determined by MR. Furthermore, ferritin levels reflected lower serum adiponectin, a marker of insulin resistance, and liver fat, but not cytokine or CRP levels. Ferritin levels differed according to fibrosis stage, increasing from early to moderate disease, and declining in cirrhosis. A similar pattern was found in the validation cohort of NAFLD patients, where ferritin levels were highest in those with macrophage iron deposition. Multivariate analysis revealed liver iron and hepcidin levels as the major determinants of serum ferritin. CONCLUSIONS: While hyperferritinaemia is associated with markers of liver injury and insulin resistance, serum hepcidin and hepatic iron are the strongest predictors of ferritin levels. These findings highlight the role of disordered iron homeostasis in the pathogenesis of NAFLD, suggesting that therapies aimed at correcting iron metabolism may be beneficial.


Assuntos
Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/sangue , Ferro/análise , Fígado/química , Hepatopatia Gordurosa não Alcoólica/sangue , Adiponectina/sangue , Adulto , Idoso , Biomarcadores/sangue , Feminino , Hepcidinas/análise , Humanos , Resistência à Insulina , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/etiologia , Masculino , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Estudos Prospectivos , Regulação para Cima
7.
Presse Med ; 46(12 Pt 2): e329-e338, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29150231

RESUMO

The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and to identify or rule out hepatic iron overload, in a three-stage process. In the first step, clinical findings and several simple laboratory tests are sufficient to detect four of the most frequent causes of high ferritin concentrations: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with substantial hepatic iron overload. If transferrin saturation is high (> 50%), hereditary hemochromatosis will be considered in priority. In the second phase, rarer diseases will be sought. Among them, only chronic hematologic diseases (acquired or congenital) and excessive iron intake or infusions (patients on chronic dialysis and high-level athletes) are at risk of iron overload. In the third stage, if a doubt persists about the cause or if the ferritin concentration is very high or continues to rise, it is essential to verify the hepatic iron concentration to rule out overload. The principal examination to guide diagnosis and treatment is hepatic MRI to assess its iron concentration. It is essential to remember that more than 40% of patients with hyperferritinemia have several causes simultaneously present.


Assuntos
Ferritinas/metabolismo , Distúrbios do Metabolismo do Ferro/diagnóstico , Testes Diagnósticos de Rotina , Ferritinas/sangue , Humanos , Distúrbios do Metabolismo do Ferro/sangue
8.
Arterioscler Thromb Vasc Biol ; 37(9): 1788-1792, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28684612

RESUMO

OBJECTIVE: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on risk of coronary artery disease (CAD). APPROACH AND RESULTS: A 2-sample Mendelian randomization approach is used to estimate the effect of iron status on CAD risk. Three loci (rs1800562 and rs1799945 in the HFE gene and rs855791 in TMPRSS6) that are each associated with serum iron, transferrin saturation, ferritin, and transferrin in a pattern suggestive of an association with systemic iron status are used as instruments. SNP (single-nucleotide polymorphism)-iron status association estimates are based on a genome-wide association study meta-analysis of 48 972 individuals. SNP-CAD estimates are derived by combining the results of a genome-wide association study meta-analysis of 60 801 CAD cases and 123 504 controls with those of a meta-analysis of 63 746 CAD cases and 130 681 controls obtained from Metabochip and genome-wide association studies. Combined Mendelian randomization estimates are obtained for each marker by pooling results across the 3 instruments. We find evidence of a protective effect of higher iron status on CAD risk (iron odds ratio, 0.94 per SD unit increase; 95% confidence interval, 0.88-1.00; P=0.039; transferrin saturation odds ratio, 0.95 per SD unit increase; 95% confidence interval, 0.91-0.99; P=0.027; log-transformed ferritin odds ratio, 0.85 per SD unit increase; 95% confidence interval, 0.73-0.98; P=0.024; and transferrin odds ratio, 1.08 per SD unit increase; 95% confidence interval, 1.01-1.16; P=0.034). CONCLUSIONS: This Mendelian randomization study supports the hypothesis that higher iron status reduces CAD risk. These findings may highlight a therapeutic target.


Assuntos
Doença da Artéria Coronariana/genética , Proteína da Hemocromatose/genética , Distúrbios do Metabolismo do Ferro/genética , Ferro/sangue , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Serina Endopeptidases/genética , Estudos de Casos e Controles , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/prevenção & controle , Bases de Dados Genéticas , Ferritinas/sangue , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico , Análise da Randomização Mendeliana , Razão de Chances , Fenótipo , Fatores de Proteção , Medição de Risco , Fatores de Risco , Transferrina/análise
9.
Einstein (Sao Paulo) ; 15(4): 492-495, 2017.
Artigo em Inglês, Português | MEDLINE | ID: mdl-28746593

RESUMO

Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5'UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice.


Assuntos
Apoferritinas/sangue , Catarata/congênito , Distúrbios do Metabolismo do Ferro/congênito , Ferro/sangue , Brasil , Catarata/sangue , Catarata/genética , Criança , Pré-Escolar , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/genética , Masculino , Mutação/genética , Síndrome
10.
Am J Hematol ; 92(10): 1052-1061, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28681497

RESUMO

The hepcidin-ferroportin axis underlies the pathophysiology of many iron-associated disorders and is a key target for the development of therapeutics for treating iron-associated disorders. The aims of this study were to investigate the dynamics of hepcidin-mediated ferroportin internalization and the consequences of a novel disease-causing mutation on ferroportin function. Specific reagents for ferroportin are limited; we developed and characterized antibodies against the largest extracellular loop of ferroportin and developed a novel cell-based assay for studying hepcidin-ferroportin function. We show that hepcidin-mediated ferroportin internalization is a rapid process and could be induced using low concentrations of hepcidin. Targeted next-generation sequencing utilizing an iron metabolism gene panel developed in our group identified a novel ferroportin p.D84E variant in a patient with iron overload. Wild-type and mutant ferroportin constructs were generated, transfected into HEK293 cells and analysed using an all-in-one flow-cytometry-based assay to study the effects on hepcidin-mediated internalization and iron transport. Consistent with the classical phenotype of ferroportin disease, the p.D84E mutation results in an inability to transport iron and hepcidin insensitivity. These results validate a recently proposed 3D-structural model of ferroportin and highlight the significance of this variant in the structure and function of ferroportin. Our novel ferroportin antibody and assay will be valuable tools for investigating the regulation of hepcidin/ferroportin function and the development of novel approaches for the therapeutic modulation of iron homeostasis.


Assuntos
Proteínas de Transporte de Cátions/metabolismo , Hepcidinas/metabolismo , Distúrbios do Metabolismo do Ferro/genética , Ferro/metabolismo , Mutação , Bioensaio , Proteínas de Transporte de Cátions/sangue , Proteínas de Transporte de Cátions/genética , Feminino , Citometria de Fluxo , Células HEK293 , Hepcidinas/farmacologia , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/metabolismo , Cinética , Transporte Proteico , Receptores de Superfície Celular/metabolismo , Transfecção
11.
Mov Disord ; 32(10): 1478-1482, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28643901

RESUMO

BACKGROUND: Compromised iron status is important in restless legs syndrome pathophysiology. We compared the efficacy and tolerability of ferric carboxymaltose (single intravenous dose) versus placebo for restless legs syndrome treatment in iron-deficient nonanemic patients. METHODS: Patients with moderate to severe restless legs syndrome and serum ferritin < 75 µg/L (or serum ferritin 75-300 µg/L and transferrin saturation < 20%) were randomized to ferric carboxymaltose (1000 mg iron) or placebo. Mean change difference between ferric carboxymaltose and placebo in International Restless Legs Syndrome Severity Scale score from baseline to week 4 was the primary end point; week 12 was a secondary end point. RESULTS: Ferric carboxymaltose treatment (n = 59) led to nonsignificant improvement over placebo (n = 51) in International Restless Legs Syndrome Severity Scale score at week 4 (difference [95% confidence interval], -2.5 [-5.93 to 1.02], P = 0.163), reaching significance by week 12 (-4.66 [-8.59 to -0.73], P = 0.021). CONCLUSIONS: In patients who responded to treatment, ferric carboxymaltose may require more time to stabilize restless legs syndrome than previously assumed. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Compostos Férricos/uso terapêutico , Hematínicos/uso terapêutico , Distúrbios do Metabolismo do Ferro/tratamento farmacológico , Maltose/análogos & derivados , Síndrome das Pernas Inquietas/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Feminino , Ferritinas/sangue , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Masculino , Maltose/uso terapêutico , Pessoa de Meia-Idade , Estudos Prospectivos , Síndrome das Pernas Inquietas/sangue , Método Simples-Cego , Fatores de Tempo , Resultado do Tratamento
13.
Neonatology ; 111(1): 68-75, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27547966

RESUMO

BACKGROUND: The substantial risk of iron overload is not routinely monitored in most of the neonatal intensive care units (NICUs) in Japan; however, blood transfusion is an essential strategy for successfully treating preterm low-birth-weight infants. OBJECTIVE: The aim of this study was to investigate the iron status and clinical features of infants with a birth weight of <1,500 g, i.e. very-low-birth-weight infants (VLBWIs). METHODS: This prospective observational study enrolled 176 (82.6%) patients from a total of 213 VLBWIs admitted to our NICU from 2009 to 2014. Clinical information was collected including maternal records and infant morbidity and treatment. Management strategies including enteral iron supplementation, erythropoietin administration and blood transfusion were allowed according to the consensus in Japan. The hematological status was surveyed from birth to 12 postnatal weeks of age. The iron status was determined according to serum iron, unbound iron-binding capacity and serum ferritin. The definition of hyperferritinemia was set as a value of ≥500 ng/ml. RESULTS: Twenty-four (13.6%) infants displayed hyperferritinemia. A multiple logistic analysis selected 3 associated factors of hyperferritinemia: surgical ligation for patent ductus arteriosus, sepsis and moderate or severe states of bronchopulmonary dysplasia. We also verified that the value of ferritin was significantly correlated with those of aspartate transaminase, creatine kinase and C-reactive protein according to a multilinear regression analysis. After excluding the ferritin data of these outliers, we did not observe any factors associated with hyperferritinemia. CONCLUSIONS: Hyperferritinemia might be associated with oxygen radical diseases and susceptibility to infection.


Assuntos
Displasia Broncopulmonar/epidemiologia , Permeabilidade do Canal Arterial/epidemiologia , Eritropoetina/uso terapêutico , Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/epidemiologia , Sobrecarga de Ferro/epidemiologia , Sepse/epidemiologia , Peso ao Nascer , Proteína C-Reativa/análise , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso/sangue , Unidades de Terapia Intensiva Neonatal , Distúrbios do Metabolismo do Ferro/sangue , Japão , Modelos Logísticos , Masculino , Análise Multivariada , Estudos Prospectivos
14.
Joint Bone Spine ; 84(3): 293-297, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27659401

RESUMO

OBJECTIVES: Hyperuricemia is becoming increasingly frequent in the population, and is known to be sometimes the cause of gout. The impact of uric acid is still not clearly understood, however. The iron metabolism may interact with the uric acid metabolism. The aim of this study was to examine the relationship between the serum uric acid and serum ferritin levels in a cohort of hemochromatosis patients who were homozygous for the HFE p.Cys282Tyr mutation. METHODS: 738 patients with the HFE gene mutation Cys282Tyr in the homozygous state were included in the study. The variables measured during the initial evaluation were compared in univariate analysis by Student's t test. In multivariate analysis, linear stepwise regression was used. RESULTS: In the group of hyperuricemic patients, ferritinemia was significantly higher than in the group of non-hyperuricemic patients (1576.7±1387.4µg/l vs. 1095.63±1319.24µg/l, P<0.005). With multivariate analysis, only ferritin and BMI independently explained the uricemia (R2=0.258) after adjustment for age, glycemia and CRP. The correlation between uricemia and log(ferritin) with partial regression correlation coefficients was 0.307 (P<0.01). CONCLUSIONS: The increase in uricemia is associated with the increase in ferritin in a population of patients who were homozygous for the HFE gene mutation p.Cys282Tyr and this independently of factors commonly associated with hyperuricemia. The increase in uric acid associated with hyperferritinemia, could be a response to the visceral toxicity of excess non-transferrin bound iron linked to oxidative stress via the antioxidant properties of uric acid.


Assuntos
Ferritinas/sangue , Proteína da Hemocromatose/genética , Hemocromatose/genética , Hiperuricemia/sangue , Ácido Úrico/sangue , Adulto , Feminino , Hemocromatose/sangue , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Masculino , Pessoa de Meia-Idade , Mutação , Fatores de Risco
15.
PLoS One ; 11(12): e0164447, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27906964

RESUMO

BACKGROUND: Lactulose/mannitol (L:M) test has been used as a non-invasive marker of intestinal mucosal -integrity and -permeability (enteropathy). We investigated the association of enteropathy with anthropometrics, micronutrient- status, and morbidity in children. METHODS: The urine and blood samples were collected from 925 children aged 6-24 months residing in Mirpur slum of Dhaka, Bangladesh during November 2009 to April 2013. L:M test and micronutrient status were assessed in the laboratory of International Centre for Diarrhoeal Diseases Research, Bangladesh (icddr,b) following standard procedure. RESULTS: Mean±SD age of the children was 13.2±5.2 months and 47.8% were female. Urinary- lactulose recovery was 0.264±0.236, mannitol recovery was 3.423±3.952, and L:M was 0.109±0.158. An overall negative correlation (Spearman's-rho) of L:M was found with age (rs = -0.087; p = 0.004), weight-for-age (rs = -0.077; p = 0.010), weight-for-length (rs = -0.060; p = 0.034), mid-upper-arm-circumference (rs = -0.098; p = 0.001) and plasma-retinol (rs = -0.105; p = 0.002); and a positive correlation with plasma α-1-acid glycoprotein (rs = 0.066; p = 0.027). However, most of the correlations were not very strong. Approximately 44% of children had enteropathy as reflected by L:M of ≥0.09. Logistic regression analysis revealed that younger age (infancy) (adjusted odds ratio (AOR) = 1.35; p = 0.027), diarrhea (AOR = 4.00; p = 0.039) or fever (AOR = 2.18; p = 0.003) within previous three days of L:M test were the risk factors of enteropathy (L:M of ≥0.09). CONCLUSIONS: Enteropathy (high L:M) is associated with younger age, undernutrition, low vitamin A and iron status, and infection particularly diarrhea and fever.


Assuntos
Diarreia/fisiopatologia , Absorção Intestinal , Mucosa Intestinal/fisiopatologia , Desnutrição/fisiopatologia , Bangladesh , Permeabilidade da Membrana Celular , Criança , Pré-Escolar , Diarreia/sangue , Diarreia/urina , Feminino , Febre/sangue , Febre/fisiopatologia , Febre/urina , Humanos , Lactente , Mucosa Intestinal/metabolismo , Ferro/metabolismo , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/fisiopatologia , Distúrbios do Metabolismo do Ferro/urina , Lactulose/sangue , Lactulose/urina , Masculino , Desnutrição/sangue , Desnutrição/urina , Manitol/sangue , Manitol/urina , Vitamina A/metabolismo
17.
Eur J Gastroenterol Hepatol ; 28(10): 1126-9, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27337098

RESUMO

BACKGROUND AND AIMS: The etiology of iron deficiency (ID) without anemia in young men is unclear, and there are no evidence-based recommendations for the required gastrointestinal (GI) evaluation. The aims of this study were to examine the incidence of significant GI pathology and the development of anemia during the follow-up of young men presenting with ID, but without anemia. METHODS: All young men (18-30 years) who served in the Israel Defense Forces during the years 2005-2013 and had at least a single laboratory test indicative of ID without anemia were followed until the diagnosis of significant GI pathology or discharge from military service. RESULTS: The study population included 2061 young men (mean age 20.7±1.8). During follow-up of 3150 person years, significant GI pathologies were diagnosed in 39 patients: inflammatory bowel disease in 25 (1.2%), celiac disease in 8 (0.4%), and peptic disease in 4 (0.1%). No cases of GI-related cancer were diagnosed. ID anemia developed during follow-up in 203 (9.8%). Lower baseline hemoglobin levels, lower ferritin levels, and younger age at diagnosis were more common among those who developed anemia. The development of anemia was a predisposing factor for the diagnosis of GI pathology (risk ratio=3.60, 95% confidence interval 1.34-8.32, P=0.012). CONCLUSION: Significant GI pathology is very uncommon in young men presenting with ID. Overt anemia developed in close to 10% of the study cohort. Therefore, we advise simple GI evaluation (celiac serology, C-reactive protein or fecal calprotectin, and urease breath test) as well as follow-up in this population.


Assuntos
Anemia Ferropriva/epidemiologia , Gastroenteropatias/epidemiologia , Trato Gastrointestinal/patologia , Distúrbios do Metabolismo do Ferro/epidemiologia , Ferro/deficiência , Adolescente , Adulto , Anemia Ferropriva/sangue , Anemia Ferropriva/diagnóstico , Biomarcadores/sangue , Progressão da Doença , Gastroenteropatias/diagnóstico , Gastroenteropatias/patologia , Humanos , Incidência , Ferro/sangue , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico , Israel/epidemiologia , Masculino , Razão de Chances , Estudos Prospectivos , Fatores de Risco , Fatores de Tempo , Adulto Jovem
18.
Blood ; 127(23): 2809-13, 2016 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-27044621

RESUMO

The discovery of the iron-regulatory hormone hepcidin in 2001 has revolutionized our understanding of iron disorders, and its measurement should advance diagnosis/treatment of these conditions. Although several assays have been developed, a gold standard is still lacking, and efforts toward harmonization are ongoing. Nevertheless, promising applications can already be glimpsed, ranging from the use of hepcidin levels for diagnosing iron-refractory iron deficiency anemia to global health applications such as guiding safe iron supplementation in developing countries with high infection burden.


Assuntos
Técnicas e Procedimentos Diagnósticos , Hepcidinas/fisiologia , Distúrbios do Metabolismo do Ferro/diagnóstico , Animais , Biomarcadores/sangue , Análise Química do Sangue/métodos , Testes Hematológicos , Hepcidinas/sangue , Hepcidinas/química , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/terapia
19.
Ann Hepatol ; 15(4): 540-544, 2016 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28869748

RESUMO

Background &amp;amp;amp; aims. Hyperferritinemia (HF) is frequently present in patients with metabolic syndrome (MS). MS associated with HF is named dysmetabolic hyperferritinemia (DH). There are some publications that propose that DH is associated with a raised liveriron concentration (LIC). We studied the LIC in patients referred for HF to a secondary hospital to determine if there are differences between patients with or without MS. MATERIAL AND METHODS: We conducted a prospective study of 132 consecutive patients with HF from January to December 2010. The MS was defined by the International Diabetes Federation criteria (2005). LIC was determined by Magnetic resonance imaging (MRI). RESULTS: The number of patients for which there was enough data to determine MS was 97, out of which 54 had MS and 43 had no MS (NMS). In 54/97 patients, MRI for LIC determination was performed. From the MS group, 44 were men (27 underwent MRI) and 10 women (9 MRI). The mean LIC was 27.83 ± 20.90 ?mol/g for the MS group. In the NMS group, 36 were men (13 MRI), and 7 women (5 MRI). In 18 patients from the NMS group, LIC was determined by MRI. The mean LIC was 33.16 ± 19.61 ?mol/g in the NMS group. We compared the mean values of LIC from both groups (MS vs. NMS) and no significant differences were found (p = 0.067). CONCLUSION: Patients with DH present a mean LIC within normal values and their values do not differ from those of patients with HF but without MS.


Assuntos
Ferritinas/sangue , Distúrbios do Metabolismo do Ferro/metabolismo , Ferro/metabolismo , Fígado/metabolismo , Síndrome Metabólica/metabolismo , Adulto , Idoso , Biomarcadores/sangue , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico por imagem , Fígado/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/diagnóstico por imagem , Pessoa de Meia-Idade , Estudos Prospectivos , Espanha , Regulação para Cima
20.
Am J Med Genet A ; 170A(2): 322-328, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26481852

RESUMO

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a subtype of neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy. BPAN is characterized by developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. Brain magnetic resonance imaging (MRI) shows iron deposition in the bilateral globus pallidus (GP) and substantia nigra (SN). Clinical manifestations and laboratory findings in early childhood are limited. We report a 3-year-old girl with BPAN who presented with severe developmental delay and characteristic facial features. In addition to chronic elevation of serum aspartate transaminase, lactate dehydrogenase, creatine kinase, and soluble interleukin-2 receptor, she had persistent elevation of neuron specific enolase (NSE) in serum and cerebrospinal fluid. MRI using susceptibility-weighted imaging (SWI) demonstrated iron accumulation in the GP and SN bilaterally. Targeted next-generation sequencing identified a de novo splice-site mutation, c.831-1G>C in WDR45, which resulted in aberrant splicing evidenced by reverse transcriptase-PCR. Persistent elevation of NSE and iron deposition on SWI may provide clues for diagnosis of BPAN in early childhood.


Assuntos
Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/diagnóstico , Ferro/metabolismo , Imagem por Ressonância Magnética/métodos , Distrofias Neuroaxonais/sangue , Distrofias Neuroaxonais/diagnóstico , Fosfopiruvato Hidratase/sangue , Proteínas de Transporte/genética , Pré-Escolar , Feminino , Genes Ligados ao Cromossomo X/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Distúrbios do Metabolismo do Ferro/genética , Mutação/genética , Distrofias Neuroaxonais/genética , Prognóstico
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