RESUMO
Diacylglycerol O-acyltransferase 1 deficiency is a recently discovered, rare congenital diarrheal disorder. We report 2 patients with newly described pathogenic mutations in diacylglycerol O-acyltransferase 1 with compound heterozygous inheritance and unusual phenotypes. This included a macrophage activation syndrome-like response seen in one patient, ameliorated with low dietary fat.
Assuntos
DNA/genética , Diacilglicerol O-Aciltransferase/genética , Diarreia/genética , Mutação , Biomarcadores/sangue , Análise Mutacional de DNA , Diacilglicerol O-Aciltransferase/sangue , Diarreia/sangue , Diarreia/enzimologia , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND: Sensitivity and specificity of anti-human tissue transglutaminase antibodies (anti-htTGA) seem to be superior to those of anti-tissue transglutaminase of guinea pig (anti-gptTGA) for screening patients with celiac disease (CD), but there are still controversies. The aim of this study was to evaluate the performance of two INOVA ELISA kits to detect IgA anti-htTGA and anti-gptTGA in patients with and without CD. METHODS: The study groups were comprised of 49 anti-endomysial antibody (EMA)-positive untreated-CD, and 123 controls (EMA-negative treated CD, EMA-negative chronic diarrhea, autoimmune hepatitis, inflammatory bowel disease and healthy people). RESULTS: The agreement between the two ELISAs was statistically significant in all study groups and there was no significant difference between them (92.7% agreement; kappa = 0.70; kappa p = 0.001; McNemar p = 1). All patients with serum reactivity of more than 100 units had histologic diagnosis of CD. In seven of 10 patients with treated-CD who had control biopsies, villous atrophy was still present in four who tested positive by both kits. Two of three celiacs with histologic remission tested positive for both anti-tTGA. CONCLUSIONS: the anti-gptTGA and anti-htTGA determination were equally efficient in identifying patients with untreated-CD with high titers of EMA. Whatever the anti-tTGA ELISA used, the reactivity above 100 units was always related to active CD diagnosed by histologic alterations in intestinal biopsies. The anti-tTGA reactivity by both kits was not only similar in determining histologic activity in the follow-up of CD after a gluten free diet, but also in identifying positive sera from the control groups, regardless if CD has been confirmed by duodenal biopsies.
Assuntos
Anticorpos/sangue , Ensaio de Imunoadsorção Enzimática/métodos , Fator XIIIa/imunologia , Imunoglobulina A/sangue , Adulto , Animais , Doença Celíaca/sangue , Doença Celíaca/imunologia , Doença Crônica , Diarreia/sangue , Diarreia/enzimologia , Diarreia/imunologia , Feminino , Cobaias , Humanos , Síndrome do Intestino Irritável/sangue , Síndrome do Intestino Irritável/enzimologia , Síndrome do Intestino Irritável/imunologia , MasculinoRESUMO
Myeloperoxidase (MPO), a specific polymorphonuclear leukocyte enzyme, has been used previously to quantify the number of neutrophils in tissue. MPO activity was found to be linearly related to the number of neutrophil cells. In an attempt to use this method in leukocytes measuring in stool, fecal MPO was solubilized with hexadecyltrimethylammonium bromide and the MPO activity was measured by a dianisidine-H2O2 assay. Stools from 10 normal subjects and 39 patients with diarrhea produced by enteropathogenic bacteria were examined for leukocytes by MPO activity as well as microscopically using methylene blue stain, MPO activity was positive in 36 patients (92%) and leukocytes were present by microscopic observation in 30 (77%). Fecal leukocytes were not found in healthy controls and the MPO activity was undectable. Stool MPO activity had a range of from 1.6 to 2,830.0 x 10(3) UMPO per gram of feces (median 460.0). The number of neutrophils obtained through MPO activity had a range of 6.0 to 13,216.0/ mm3 (median 1,261.0). Fecal MPO activity is a simple biochemical assay for the detection and quantification of fecal leukocytes.
Assuntos
Diarreia/enzimologia , Fezes/enzimologia , Peroxidase/metabolismo , Diarreia/sangue , Fezes/citologia , Humanos , Contagem de Leucócitos , Leucócitos/enzimologia , Neutrófilos/enzimologiaRESUMO
To determine the prevalence of short polymers of glucose and starch malabsorption caused by small intestinal glucoamylase deficiency in children with chronic diarrhea, we studied small bowel biopsy specimens from 511 children (aged 1 month to 9 years) with chronic diarrhea evaluated at 54 medical centers. Glucoamylase and disaccharidase (lactase, sucrase, maltase, and palatinase) enzyme assays were performed. Of the 511 children, 15 had glucoamylase deficiency. Six who had significant small intestinal mucosal injury and disaccharidase deficiencies were defined as having secondary glucoamylase deficiency; the other nine patients with normal mucosal morphologic features were defined as having primary glucoamylase deficiency. Secretin tests showed normal pancreatic amylase values for age in all seven children tested. Four of them had abnormal findings on tolerance tests for starch and short polymers of glucose (rise in blood glucose concentration: < 20 mg/dl) and reducing substances in stools, and three of these four had symptoms of intolerance (abdominal distention, flatulence, and diarrhea). All seven patients responded to a starch elimination diet. After reintroduction of a starch diet, diarrhea recurred in four patients; this was alleviated 48 hours after reelimination of starch. We conclude that intestinal glucoamylase deficiency is present in some patients with chronic diarrhea.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/complicações , Diarreia/enzimologia , Glucana 1,4-alfa-Glucosidase/deficiência , Amido/metabolismo , Erros Inatos do Metabolismo dos Carboidratos/patologia , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Criança , Pré-Escolar , Doença Crônica , Diarreia/etiologia , Diarreia/patologia , Feminino , Humanos , Lactente , Absorção Intestinal , Intestino Delgado/enzimologia , Intestino Delgado/patologia , Intestino Delgado/fisiopatologia , MasculinoRESUMO
The present study describes the first attempt to detect antisecretory activity in a lectin fraction of plasma from patients with acute diarrhea. The plasma antisecretory protein (ASP) was purified by affinity chromatography in agarose, and its antisecretory activity in rats subjected to intestinal challenge with cholera toxin. During the first 24 h of the diarrheal episode, antisecretory activity in patients (median 0, range 0 -25 percent) was lower than that seen in the asymptomatic group (median 10, range 0 -30 percent); 3 days leter, when diarrhea ceased in most of the patients, the ASP activity increased significantly (median 30, range 0 -70 percent). However, 5 days later the activity decreased again (median 0, range 0 . 55 percent). No differences in ASP levels were found between cases associated with an enteropathogen and those whwew no pathogen was identified. These findings reveal an inverse relationship between the increase in ASP and the patient's intestinal secretion; suggesting that ASP plays a role in the compensatory mechanisms that occur in diarrhea in humans
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adolescente , Toxinas Bacterianas/metabolismo , Diarreia/enzimologia , Mucosa Intestinal/fisiopatologia , Secreções Intestinais/metabolismo , Lectinas , Proteínas Sanguíneas/análiseRESUMO
The development of glucoamylase activity was compared to that of disaccharidase in the small intestinal mucosa of infants and children. By the age of one month, infants have glucoamylase and disaccharidase levels comparable to those of young adults, indicating that young infants may be able to digest and absorb starches. In infants and children with varying degrees of mucosal injury of the small intestine, the activities of glucoamylase decreased progressively with increasing severity of the villus atrophy. However, the reduction of lactase, palatinase, and sucrase activities was more severe than the loss of activities of glucoamylase and maltase. Thus, children and infants may tolerate polymers of glucose better than disaccharides when they have mucosal injury associated with prolonged diarrhea.