RESUMO
Carnitine deficiency secondary to renal Fanconi's tubulopathy has been described in only a few inborn errors of metabolism: cystinosis, galactosemia, and Fanconi-Bieckel syndrome. We report a 27-month-old infant who presented with a sudden change in gait owing to proximal muscle weakness. The laboratory evaluation showed carnitine deficiency associated with Fanconi's tubulopathy. Eventually, tyrosinemia type I was diagnosed. Carnitine deficiency can contribute to the clinical picture of hepatorenal tyrosinemia and should therefore be evaluated and treated.
Assuntos
Carnitina/deficiência , Síndrome de Fanconi/diagnóstico , Hipotonia Muscular/diagnóstico , Tirosinemias/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
Forty-four nondiabetic patients with celiac disease (CD) were examined for the presence of insulin-dependent diabetes mellitus (IDDM)-related autoantibodies. Islet cell antibodies (ICA) were detected in 2 of 44 (4.5%). None of the 200 age- and sex-matched healthy controls was ICA positive (p < 0.05). Competitive anti-insulin antibodies (CIAA) were detected in 1 of 44 (2.5%) patients. First-phase insulin reserve (FPIR), stimulated insulin reserve (SIR), and glycosylated hemoglobin (GHB) levels were normal in the autoantibody-positive patients. Our data suggest that, like first-degree relatives of IDDM patients, CD patients are characterized by an increased prevalence of diabetes-related autoantibodies. Further follow-up is needed to determine whether the presence of these autoantibodies in nondiabetic CD patients predicts future IDDM.
Assuntos
Autoanticorpos/sangue , Doença Celíaca/imunologia , Diabetes Mellitus Tipo 1/imunologia , Adolescente , Criança , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Teste de Tolerância a Glucose , Hemoglobinas Glicadas/análise , Humanos , Insulina/imunologia , Ilhotas Pancreáticas/imunologia , MasculinoRESUMO
The prevalence of increased renal medullary echogenicity in healthy neonates was looked for. A group of 178 neonates underwent renal ultrasound on the first and second days of life. On the first day of life 58% had hyperechoic material in their renal collecting system, whereas on the second day only 33% were found to have ultrasonographically demonstrable increased echogenicity in their kidneys. Urinary protein concentrations in infants with increased renal echogenicity were significantly higher than in those without increased renal echogenicity.
Assuntos
Medula Renal/diagnóstico por imagem , Adjuvantes Imunológicos/urina , Estudos de Casos e Controles , Humanos , Recém-Nascido , Túbulos Renais Coletores/diagnóstico por imagem , Mucoproteínas/urina , Prevalência , Proteinúria/diagnóstico , Fatores de Tempo , Ultrassonografia , Bexiga Urinária/diagnóstico por imagem , UromodulinaRESUMO
Fingerprints were obtained from 46 patients with celiac disease and compared with those of 46 control subjects matched for sex and ethnic origin. Whorls were more frequent and ulnar loops were less frequent, significantly, in celiac patients than in controls. A digital pattern of four or more whorls was present in 69% of celiac patients, but in only 28% of controls (p less than 0.001). As a diagnostic test, the fingerprint's sensitivity, specificity, and positive and negative predictive values were 66, 73, 67, and 71%, respectively. Similarly, a pattern of four or less ulnar loops was evident in 44% of celiac patients as opposed to only 19% of controls (p less than 0.005). Sensitivity, specificity, and positive and negative predictive values were 46%, 81%, 62%, and 63%, respectively. We conclude that particular dermatoglyphic patterns are significantly more common in patients with celiac disease than in controls. We therefore suggest that this marker be used as a diagnostic clue, indicating the need for further investigation.