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1.
J Pharm Biomed Anal ; 176: 112798, 2019 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-31394303

RESUMO

PURPOSE: Salts of phenylacetic acid (PAA) and phenylbutyric acid (PBA) have been used for nitrogen elimination as a treatment for hyperammonaemia caused by urea cycle disorders (UCD). A new analytical method for PBA measurement in urine which helps to evaluate the drug adherence has been implemented. METHODS: Urine specimens from UCD patients receiving PBA were analysed by tandem mass spectrometry to measure urine phenylacetylglutamine (PAGln). Some clinical and biochemical data for each patient were collected. RESULTS: Our study included 87 samples from 40 UCD patients. The PAGln levels did not correlate with height, weight or age. However, the PAGln values showed correlation with PBA dose (r = 0.383, P = 0.015). Plasma glutamine and ammonia levels presented a positive correlation (r = 0.537, P < 0.001). The stability for PAGln in urine was determined at different storage temperatures. CONCLUSIONS: We have developed a simple method for the determination of PAGln in urine, which acts as useful biomarker of effective drug delivery. PAGln in urine is stable at room temperature at least for 15 days, and for several months when frozen at -20 °C. This procedure is useful for the optimization and monitorization of the drug dose allowing the use of spot urine samples.

3.
Eur J Hum Genet ; 27(4): 556-562, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30626930

RESUMO

The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA samples were analyzed by next-generation sequencing using a customized exome sequencing panel. When required, the Illumina extended clinical exome panel was used, as was Sanger sequencing or transcriptional profiling. Biochemical tests were used to confirm the results of the genetic analysis. Using the customized panel, the metabolic disease suspected in 83 newborns (59%) was confirmed. In three further cases, two monoallelic variants were detected for two genes involved in the same biochemical pathway. In the remainder, either a single variant or no variant was identified. Given the persistent absence of biochemical alterations, carrier status was assigned in 39 cases. False positives were recorded for 11. In five cases in which the biochemical pattern was persistently altered, further genetic analysis allowed the detection of two variants affecting the function of BCAT2, ACSF3, and DNAJC12, as well as a second, deep intronic variant in ETFDH or PTS. The present results suggest that genetic analysis using extended next-generation sequencing panels can be used as a confirmatory test for suspected inborn errors of metabolism detected in newborn screening programs. Biochemical tests can be very helpful when a diagnosis is unclear. In summary, simultaneous genomic and metabolomic analyses can increase the number of inborn errors of metabolism that can be confirmed following suggestive newborn screening results.

4.
J Inherit Metab Dis ; 42(3): 407-413, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30671984

RESUMO

PURPOSE: We report a patient with a human cationic amino acid transporter 2 (CAT-2) defect discovered due to a suspected arginase 1 deficiency observed in newborn screening (NBS). METHODS: A NBS sample was analyzed using tandem mass spectrometry. Screen results were confirmed by plasma and urine amino acid quantification. Molecular diagnosis was done using clinical exome sequencing. Dimethylated arginines were determined by HPLC and nitrate/nitrite levels by a colorimetric assay. The metabolomic profile was analyzed using 1D nuclear magnetic resonance spectroscopy. RESULTS: A Spanish boy of nonconsanguineous parents had high arginine levels in a NBS blood sample. Plasma and urinary cationic amino acids were high. Arginase enzyme activity in erythrocytes was normal and no pathogenic mutations were identified in the ARG1 gene. Massive parallel sequencing detected two loss-of-function mutations in the SLC7A2 gene. Currently, the child receives a protein-controlled diet of 1.2 g/kg/day with protein-and amino-acid free infant formula, 30 g/day, and is asymptomatic. CONCLUSION: We identified a novel defect in human CAT-2 due to biallelic pathogenic variants in the SLC7A2 gene. The characteristic biochemical profile includes high plasma and urine arginine, ornithine, and lysine levels. NBS centers should know of this disorder since it can be detected in arginase 1 deficiency screening.

6.
Orphanet J Rare Dis ; 13(1): 125, 2018 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-30041674

RESUMO

BACKGROUND: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Furthermore some cases remain undiagnosed because no biochemical methods have been available to test for cobalamin absorption and transport defects. RESULTS: This paper reports the use of massive parallel sequencing of DNA (exome analysis) for the accurate and rapid genetic diagnosis of cobalamin-related defects in a cohort of affected patients. The method was first validated in an initial cohort with different cobalamin defects. Mendelian segregation, the frequency of mutations, and the comprehensive structural and functional analysis of gene variants, identified disease-causing mutations in 12 genes involved in the absorption and synthesis of active cofactors of vitamin B12 (22 cases), and in the non-cobalamin metabolism-related genes ACSF3 (in four biochemically misdiagnosed patients) and SUCLA2 (in one patient with an unusual presentation). We have identified thirteen new variants all classified as pathogenic according to the ACGM recommendation but four were classified as variant likely pathogenic in MUT and SUCLA2. Functional and structural analysis provided evidences to classify them as pathogenic variants. CONCLUSIONS: The present findings suggest that the technology used is sufficiently sensitive and specific, and the results it provides sufficiently reproducible, to recommend its use as a second-tier test after the biochemical detection of cobalamin disorder markers in the first days of life. However, for accurate diagnoses to be made, biochemical and functional tests that allow comprehensive clinical phenotyping are also needed.

7.
Chem Phys Lipids ; 213: 68-75, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29580835

RESUMO

OBJECTIVE: There is a lack of consensus when it comes to establishing the biochemical parameters that define metabolically healthy obese (MHO) subjects. Indeed, most studies do not include subjects' lipid profiles. Our objective was to characterize lipoprotein size, particle and subclass concentration using 1H NMR in MHO women after two years of weight loss with a hypocaloric Mediterranean diet and physical exercise. METHODS: 115 non-diabetic women (aged 35-55 years) with a body mass index (BMI) of 30-40 kg/m2 and ≤1 of the following criteria: blood pressure ≥135/85 mmHg, fasting plasma glucose ≥100 mg/dL, HDL cholesterol ≤50 mg/dL and triglycerides ≥150 mg/dL were included. After two years of intensive lifestyle modification (Mediterranean diet and physical exercise), they were classified according to their weight loss: <5%, ≥5%-<10% and ≥10%. Lipoprotein size, particle and subclass concentrations were measured using 1H NMR. RESULTS: The final population, after dropouts, were 67 women (age: 44.5 ±â€¯3.7 years, BMI: 36.3 ±â€¯4.7 kg/m2), of whom 23 (38.3%) lost <5%, and 22 (36.7%), lost ≥5% to <10% and ≥10% of baseline body weight, respectively. The lipid profile showed no significant changes after intervention, especially in small LDL particles or in production of HDL. The diameter of LDL and HDL particles did not change after two years of a Mediterranean diet and physical exercise. CONCLUSION: These results indicate that intensive lifestyle modification does not produce significant changes in the lipid profile of MHO women. Levels of more atherogenic or atheroprotective particles did not change after two years, despite the intervention.

8.
Medicine (Baltimore) ; 96(27): e7040, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28682864

RESUMO

Obesity is associated with an atherogenic lipid profile. No data exists on lipoprotein particle profiles in metabolically healthy obese (MHO) individuals. Our aim is to characterize lipoprotein size, particle, and subclass concentrations in MHO women after 3 months of weight loss through dietary restriction and physical exercise.A total of 115 nondiabetic women (aged 35-55 years) with a body mass index (BMI) of 30 to 40 kg/m and ≤1 of the following criteria: blood pressure ≤135/85 mm Hg, fasting plasma glucose ≤100 mg/dL, HDL-cholesterol ≤50 mg/dL, and triglycerides ≤150 mg/dL were included. After 3 months of intensive lifestyle modification (Mediterranean diet and physical exercise), they were classified according to their weight loss: <5%, ≥5% to <10%, and ≥10%. Lipoprotein size, particle, and subclass concentrations were measured using H NMR.The final sample, after dropouts, comprised 104 women (age: 44.4 ±â€Š3.7 years, BMI: 36.3 ±â€Š4.7 kg/m), of whom 47 (45.2%), 27 (26%), and 30 (28.8%) lost <5%, ≥5% to <10%, and ≥10% of baseline body weight, respectively. All participants experienced significant weight loss and decreases in BMI. The lipid profiles showed an increase in small, medium, and large very low density lipoprotein (VLDL) particles in all groups of study with the exception of small VLDL particles in women with ≥10% of weight loss, in which it decreased. The number of VLDL particles decreased in women who had ≥10% weight loss. On the other hand, we detected a decrease in all low density lipoprotein (cLDL) and high density lipoprotein (cHDL) concentrations.These results indicate that intensive lifestyle modification alters lipid profiles. In particular, it decreases small LDL and HDL particle numbers and does not increase medium or large HDL particles numbers.


Assuntos
Dieta Mediterrânea , Terapia por Exercício , Lipídeos/sangue , Obesidade/diagnóstico por imagem , Obesidade/terapia , Espectroscopia de Prótons por Ressonância Magnética , Adulto , Biomarcadores/sangue , Índice de Massa Corporal , Humanos , Pessoa de Meia-Idade , Obesidade/metabolismo , Método Simples-Cego , Resultado do Tratamento , Perda de Peso/fisiologia
9.
Am J Epidemiol ; 185(3): 212-223, 2017 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-28108470

RESUMO

Vitamin B12 (hereafter referred to as B12) deficiency in pregnancy is prevalent and has been associated with both lower birth weight (birth weight <2,500 g) and preterm birth (length of gestation <37 weeks). Nevertheless, current evidence is contradictory. We performed a systematic review and a meta-analysis of individual participant data to evaluate the associations of maternal serum or plasma B12 concentrations in pregnancy with offspring birth weight and length of gestation. Twenty-two eligible studies were identified (11,993 observations). Eighteen studies were included in the meta-analysis (11,216 observations). No linear association was observed between maternal B12 levels in pregnancy and birth weight, but B12 deficiency (<148 pmol/L) was associated with a higher risk of low birth weight in newborns (adjusted risk ratio = 1.15, 95% confidence interval (CI): 1.01, 1.31). There was a linear association between maternal levels of B12 and preterm birth (per each 1-standard-deviation increase in B12, adjusted risk ratio = 0.89, 95% CI: 0.82, 0.97). Accordingly, B12 deficiency was associated with a higher risk of preterm birth (adjusted risk ratio = 1.21, 95% CI: 0.99, 1.49). This finding supports the need for randomized controlled trials of vitamin B12 supplementation in pregnancy.


Assuntos
Recém-Nascido de Baixo Peso , Complicações na Gravidez , Gravidez/sangue , Nascimento Prematuro/etiologia , Deficiência de Vitamina B 12/complicações , Vitamina B 12/sangue , Peso ao Nascer , Feminino , Humanos , Recém-Nascido , Fatores de Risco
10.
Clin Chim Acta ; 450: 342-8, 2015 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-26368264

RESUMO

BACKGROUND: 3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in acylcarnitine profiles of patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and trifunctional protein (TFP) deficiency. METHODS: The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was determined for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBSs) from PA and MMA patients presenting abnormal C16:1-OH concentrations. RESULTS: The retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program exhibited significantly higher levels of C17 compared to controls. Twenty-three maternal deficiency (21 vitamin B12 deficiency, 1 homocystinuria and 1 gastrin deficiency) samples and 82 false positive for elevated propionylcarnitine (C3) were also analyzed. CONCLUSIONS: We have characterized a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Carnitina/análogos & derivados , Carnitina/sangue , Triagem Neonatal , Acidemia Propiônica/sangue , Acidemia Propiônica/diagnóstico , Biomarcadores/sangue , Humanos , Recém-Nascido , Estudos Retrospectivos
13.
JIMD Rep ; 16: 89-94, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25012579

RESUMO

Mitochondrial fatty acid ß-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.

14.
Gynecol Endocrinol ; 30(8): 549-52, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24702195

RESUMO

We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Tumor de Células de Leydig/complicações , Neoplasias Ovarianas/complicações , Virilismo/etiologia , Hiperplasia Suprarrenal Congênita/diagnóstico , Adulto , Feminino , Humanos , Tumor de Células de Leydig/diagnóstico , Neoplasias Ovarianas/diagnóstico , Virilismo/diagnóstico
15.
Int J Vitam Nutr Res ; 84(1-2): 92-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25835239

RESUMO

INTRODUCTION: Low maternal vitamin B12 status is a risk factor for various adverse pregnancy outcomes. Although vitamin B12 deficiency is not a primary target of newborn screening (NBS) programs, measurements of propionylcarnitine (C3) and its ratios with acetylcarnitine (C3/C2) and palmitoylcarnitine (C3/C16) may incidentally identify vitamin B12-deficient newborns. The objective of this study was to measure vitamin B12 levels in women during the first trimester of pregnancy, evaluate predictors of these concentrations, and study their relationship with newborn screening results. DESIGN: Vitamin B12 concentrations were evaluated in 204 women during the first trimester of pregnancy and possible confounding factors were analyzed. After giving birth, data of their newborns (189) were collected (sex, gestational age, birthweight) and the acylcarnitine profile obtained by tandem mass spectrometry during NBS was analyzed. To assess the effects of the variables on vitamin B12 serum concentrations and newborn screening markers, stepwise multiple linear regression models were used. RESULTS: The mean serum concentration of vitamin B12 was 370.8 pmol/L (502.4 pg/mL) (SD 142.81). Vitamin B12 concentrations were significantly lower in smokers (p=0.027), and in women with low meat consumption (p=0.040). There was a significant inverse correlation between mothers'’ vitamin B12 concentrations and their children’'s C3 (r=-0.24; p=0.001), C3/C2 (r=-0.23; p=0.002) and C3/C16 levels (r=-0.20; p=0.006). CONCLUSIONS: Newborn screening markers (C3, C3/C2, and C3/C16) present an inverse correlation with maternal vitamin B12 status in the first trimester of pregnancy. Regarding factors that may influence maternal serum vitamin B12 levels during the first trimester, smoking seems to have a negative effect, and meat consumption a positive effect.


Assuntos
Biomarcadores/sangue , Triagem Neonatal , Deficiência de Vitamina B 12/sangue , Vitamina B 12/sangue , Acetilcarnitina/sangue , Adolescente , Adulto , Carnitina/análogos & derivados , Carnitina/sangue , Dieta , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Bem-Estar Materno , Carne , Estado Nutricional , Gravidez , Complicações na Gravidez/sangue , Terceiro Trimestre da Gravidez , Fumar/efeitos adversos , Fumar/sangue , Adulto Jovem
18.
Mol Genet Metab ; 104(3): 414-6, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21641254

RESUMO

Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism.


Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Carnitina O-Palmitoiltransferase/genética , Síndrome de Dandy-Walker/genética , Morte Súbita/patologia , Análise Mutacional de DNA , Síndrome de Dandy-Walker/patologia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Marrocos/etnologia , Mutação/genética , Triagem Neonatal/métodos , Espanha , Espectrometria de Massas em Tandem
19.
Med. clín (Ed. impr.) ; 136(11): 465-470, abr. 2011. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-89116

RESUMO

Fundamento y objetivo: Evaluar la hipótesis de que valores elevados de glucemia se asocian con menores valores séricos de ácido úrico, en 2 poblaciones independientes. Pacientes y método:La primera población procede del Estudio Pizarra, estudio prospectivo con 1.226 sujetos que se clasificaron según su situación metabólica tras una sobrecarga oral de glucosa. Se midieron variables antropométricas, valores basales de insulina, ácido úrico y resistencia a la insulina según el Homeostasis Model Assessment (HOMA-IR). La segunda muestra procede de la base de datos del Hospital Universitario Carlos Haya (Málaga), que recoge 81.754 sucesivas peticiones analíticas de hemoglobina glucosilada (HbA1c) realizadas a lo largo de 30 meses.Resultados: En el Estudio Pizarra los valores de glucosa se relacionaron con los valores de ácido úrico en ambos sexos. En la segunda muestra los valores de ácido úrico de mujeres siguieron una relación en forma de campana con la HbA1c, incrementándose hasta valores de HbA1c del 7% y descendiendo a medida que la HbA1c aumentaba (p<0,0001). En varones se produjo un descenso lineal de los valores de ácido úrico con el incremento de la HbA1c (r=−0,19; p<0,0001), a partir de valores de HbA1c del 7%. El valor de odds ratio para hiperuricemia descendió de manera continua según aumentaban los valores de HbA1c. Conclusión: Este estudio muestra en ambas poblaciones una correlación no lineal entre los valores séricos de ácido úrico y los de glucosa, HbA1c y HOMA-IR, siendo esta tendencia especialmente marcada en mujeres. El riesgo de hiperuricemia y gota podría ser mayor en las personas con estados prediabéticos o con diabetes mejor controlados que en diabéticos mal controlados (AU)


Background and objectives: To evaluate the association between high levels of glycemia and low serum uric acid levels in two independent population-based samples. Patients and methods: The first sample was taken from the Pizarra Study, a population-based prospective study of 1.226 persons classified according to their glycometabolic status, as measured from an oral glucose tolerance test. Variables recorded included anthropometric data, serum fasting insulin, uric acid (UA) and HOMA-IR. The second sample was obtained from the Central Laboratory Database, which includes 81,754 laboratory requests for HbA1c carried out over 30 months. We selected those that included measurements of UA, triglycerides and albuminuria Results: In the Pizarra Study, the fasting glucose levels showed a bell-shaped relation with serum UA levels in men andmore especially in women (P < 0.0001). In the second sample, the UA levels in women showed a bell-shaped relation with HbA1c, increasing as the HbA1c rose to 7% and then falling with the further increase of HbA1c (P < 0.0001). Men experienced a linear decrease in UA levels as the HbA1c rose (r = 0.19; P < 0.0001), though only with effect from HbA1c values > 7%. The odds ratio for hyperuricemia ( 6 mg/dL in women and 7 mg/dL in men) fell continuously as the HbA1c levels rose. Conclusions: This study, undertaken in two different populations, showed that serum UA levels are nonlinearlycorrelated with the levels of glucose, HbA1c and HOMA-IR, especially in women. The risk ofhyperuricemia and gout may be higher in persons with prediabetic states or with better-controlleddiabetes than in persons with poorly-controlled diabetes (AU)


Assuntos
Humanos , Hiperuricemia/diagnóstico , Hemoglobina A Glicada/análise , Diabetes Mellitus/fisiopatologia , Fatores de Risco , Biomarcadores/análise , Ácido Úrico/sangue , Índice Glicêmico , Teste de Tolerância a Glucose , Resistência à Insulina
20.
Med Clin (Barc) ; 136(11): 465-70, 2011 Apr 23.
Artigo em Espanhol | MEDLINE | ID: mdl-21345460

RESUMO

BACKGROUND AND OBJECTIVES: To evaluate the association between high levels of glycemia and low serum uric acid levels in two independent population-based samples. PATIENTS AND METHODS: The first sample was taken from the Pizarra Study, a population-based prospective study of 1.226 persons classified according to their glycometabolic status, as measured from an oral glucose tolerance test. Variables recorded included anthropometric data, serum fasting insulin, uric acid (UA) and HOMA-IR. The second sample was obtained from the Central Laboratory Database, which includes 81,754 laboratory requests for HbA(1c) carried out over 30 months. We selected those that included measurements of UA, triglycerides and albuminuria. RESULTS: In the Pizarra Study, the fasting glucose levels showed a bell-shaped relation with serum UA levels in men and more especially in women (P<0.0001). In the second sample, the UA levels in women showed a bell-shaped relation with HbA(1c), increasing as the HbA(1c) rose to 7% and then falling with the further increase of HbA(1c) (P<0.0001). Men experienced a linear decrease in UA levels as the HbA(1c) rose (r=-0.19; P<0.0001), though only with effect from HbA(1c) values > 7%. The odds ratio for hyperuricemia (≥ 6mg/dL in women and ≥ 7mg/dL in men) fell continuously as the HbA(1c) levels rose. CONCLUSIONS: This study, undertaken in two different populations, showed that serum UA levels are non-linearly correlated with the levels of glucose, HbA(1c) and HOMA-IR, especially in women. The risk of hyperuricemia and gout may be higher in persons with prediabetic states or with better-controlled diabetes than in persons with poorly-controlled diabetes.


Assuntos
Hemoglobina A Glicada/análise , Hiperuricemia/sangue , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco , Adulto Jovem
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