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1.
Arq. bras. endocrinol. metab ; 52(2): 205-218, mar. 2008. ilus, tab
Article in Portuguese | LILACS | ID: lil-480992

ABSTRACT

O diabetes melito tipo 1 (DM1) caracteriza-se pela deficiência de insulina por causa da destruição das células-beta pancreáticas. O DM1 atualmente é classificado em dois subtipos: um auto-imune (DM1A) e outro não auto-imune (DM1B). O DM1A poligênico (isolado ou associado a outras doenças auto-imunes) é a forma mais prevalente. O DM1A pode fazer parte de síndromes raras em virtude de alterações monogênicas [gene regulador da auto-imunidade (AIRE)] e mutações no gene FOX-p3. O DM1B corresponde de 4 por cento a 7 por cento do DM1 e pode incluir formas não clássicas, como o diabetes fulminante e o DATC. Jovens com DM1A e sinais de resistência à insulina associados têm sido denominados de diabetes duplo (DD), tipo 1 e tipo 2. Nessa revisão são discutidas as patofisiologias e as características clínicas das formas raras de DM1A, o DM1B, as formas atípicas de DM1 não auto-imune e as inter-relações entre a inflamação subclínica da obesidade e o processo auto-imune do DM1A no DD. Em resumo, apresentamos o conceito de heterogeneidade do DM1.


Type 1 diabetes (T1D) comprises all forms of autoimmune-mediated and idiopathic beta-cell destruction leading to absolute insulin deficiency. The etiological heterogeneity of T1D has been recognized for the last decades, but it has been divided into only two subtypes so far: autoimmune (T1D)A and non-autoimmune (T1D)B mediated. Polygenic T1DA (isolated or associated to other autoimmune diseases) is the most prevalent type of T1D. T1DA might be part of rare monogenic syndromes related to mutations in the autoimmune regulator gene (AIRE) and FOXp3. Non-autoimmune forms of T1D correspond to approximately 4 to 7 percent of newly diagnosed T1D and include T1DB, as well as other types of atypical diabetes, for example fulminant type 1 diabetes and adult ketosis-prone diabetes. A new expression of diabetes in young with insulin resistance and obesity, along with the presence of pancreatic autoimmunity markers, namely auto-antibodies to islet cell antigens, is called double diabetes (DD), T1DA plus type 2 diabetes. Evidence has been collected concerning the potential effect of obesity-linked cytokines in amplifying the autoimmune response in DD. Therefore all these issues are presented and discussed in this review as the concept of heterogeneity of Type 1 Diabetes.


Subject(s)
Humans , Diabetes Mellitus, Type 1 , Genetic Diseases, X-Linked , Polyendocrinopathies, Autoimmune , Protein-Losing Enteropathies/physiopathology , Diabetes Mellitus, Type 1/classification , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 1/immunology , Diabetic Ketoacidosis/genetics , Forkhead Transcription Factors/genetics , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/immunology , Genetic Predisposition to Disease/genetics , Glucosephosphate Dehydrogenase/genetics , HLA-DR Antigens/genetics , Mutation , Polyendocrinopathies, Autoimmune/genetics , Polyendocrinopathies, Autoimmune/immunology , Protein-Losing Enteropathies/genetics , Syndrome , Transcription Factors/genetics
2.
Alexandria Journal of Pediatrics. 2006; 20 (1): 105-108
in English | IMEMR | ID: emr-75664

ABSTRACT

This work was carried out to study the prevalence of Helicobacter pylon [H-P] infection in malnourished children and to prove the association -if any- between H-P infection and protein losing enteropathy [PLE] in these children. Stool samples of 100 children ranging in age from 3 to 24 months were studied. Those children included 40 under weight children, 40 marasmic children and 20 age and sex matched well nourished children as a control group. Stools from malnourished and control children were tested for H-P antigen and focal concentration of alpha 1- antitrypsin [FA-AT] using ELISA technique. Measurement of both parameters was repeated in H-P positive children 2 weeks after eradication therapy of H-P infection. The results proved that the prevalence of H-P infection amounted to 53% of malnourished children compared to 20% of control group. The mean values of FA-AT were significantly higher in malnourished children with positive H-P infection than those with negative infection [P <0.0001]. Following the eradication therapy of H-P infection, the mean values of FA-AT showed a significant decrease [P < 0.0001]. However, these values were still higher than those of the control group [P <0.0001]. H-P infection is an important co-factor in the etiology of some aspects of protein energy malnutrition [PEM]. H-P infection plays also a leading role in the pathogenesis of PLE and its therapeutic eradication can reverse some of these findings


Subject(s)
Humans , Male , Female , Helicobacter Infections , Helicobacter pylori , Protein-Losing Enteropathies/physiopathology , alpha 1-Antitrypsin , Feces , Enzyme-Linked Immunosorbent Assay , Prevalence
4.
Arch. argent. alerg. inmunol. clín ; 26(2): 100-3, ago. 1994. tab
Article in Spanish | LILACS | ID: lil-141095

ABSTRACT

En las enteropatías perdedoras de proteínas (EPP) el incremento de la permeabilidad de las paredes del TGI causa exudación proteica superior a la normal que se manifiesta por elevada excreción proteica fecal. El estudio del turnover metabólico, mediante la inyección intravenosa de proteínas marcadas con radioisótopos del yodo, provee información sobre el metabolismo proteico, pero no es útil para medir pérdida proteica gastrointestinal pues el yodo libre atraviesa con facilidad la mucosa gástrica en ambos sentidos, lo que conduce a una valoración errónea de la excreción proteíca en la materia fecal (MF). La albúmina marcada con 51Cr permite valorar la pérdida proteíca gastrointestinal caracterizada por un patron de pérdida al bulto. Los mencionados son metodos de referencia, invasores, costosos y su empleo está reglamentado por la legislación especial pues es material radioactivo. El clearance fecal de Ó1 antitripsina es inocuo y accesible a laboratorios clínicos y posee eficacia clínica probada para valorar la excreción proteica gastrointestinal. Se ha implementado la metodología y establecido valores normales de referencia para la población infantil de la ciudad de Córdoba. La muestra estuvo conformoda por 30 niños clínicamente sanos de ambos sexos, cuyas edades estuvieron comprendidas entre los 14 y 120 meses; en el protocolo de estudio de identificación se registró la edad, sexo y análisis de laboratorio. La determinación de Ó1AT sérica y fecal se realizó por inmunodifusión radial simple (IDRS). En las enteropatías puede ocurrir malabsorción proteíca, causante de hipoalbuminemia, o pérdida proteica gastrointestinal (en enteropatías exudativas), la cual afecta las fracciones albúmina y globulinas. El clearance fecal de Ó1AT indica los mililitros de plasma depurados en 24 horas por el tracto gastrointestinal y provee orientación diagnóstica útil para el uso clínico de rutina. Los valores de referencia hallados en la población infantil de Córdoba son: -clearance fecal de Ó1AT= desde no determinable hasta 10.8ml/24h; -concentración de Ó1AT sérica = 118 a 396mg por ciento


Subject(s)
Female , Male , Humans , Infant , Child, Preschool , alpha 1-Antitrypsin/analysis , Argentina , Protein-Losing Enteropathies/diagnosis , Feces/enzymology , alpha 1-Antitrypsin/metabolism , alpha 1-Antitrypsin/physiology , Chemical Phenomena , Protein-Losing Enteropathies/physiopathology , Environmental Health , Feces/chemistry , Immunodiffusion/methods
5.
Article in Portuguese | LILACS | ID: lil-227928

ABSTRACT

Um caso de uma criança de um ano e dois meses com história de diarréia crônica e edema generalizado é relatado. A investigaçÝo laboratorial e o curso clínico foi compatível com desnutriçäo aguda associada à giardíase. A perde proteíca intestinal contribuiu e para instalaçäo do quadro. A revisäo da literatura mostra ser essa associaçäo pouco comum, apesar da alta prevalência de giardiase na infância. sÝo discutidos alguns aspectos fisiopatológicos e relatado a resposta a terapêutica instituída


Subject(s)
Protein-Losing Enteropathies/therapy , Giardiasis/complications , Protein-Losing Enteropathies/physiopathology
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