RESUMO
Congenital diarrheal disorders are heterogeneous conditions characterized by diarrhea with onset in the first years of life. They range from simple temporary conditions, such as cow's milk protein intolerance to irreversible complications, such as microvillous inclusion disease with significant morbidity and mortality. Advances in genomic medicine have improved our understanding of these disorders, leading to an ever-increasing list of identified causative genes. The diagnostic approach to these conditions consists of establishing the presence of diarrhea by detailed review of the history, followed by characterizing the composition of the diarrhea, the response to fasting, and with further specialized testing.
Assuntos
Diarreia Infantil/congênito , Diarreia Infantil/genética , Hipersensibilidade Alimentar/congênito , Hipersensibilidade Alimentar/genética , Genômica/métodos , Doenças Raras/congênito , Doenças Raras/genética , Animais , Bovinos , Diagnóstico Diferencial , Diarreia Infantil/terapia , Hipersensibilidade Alimentar/terapia , Genótipo , Humanos , Recém-Nascido , Proteínas do Leite/imunologia , Triagem Neonatal , Fenótipo , Doenças Raras/terapia , SíndromeRESUMO
To provide an overview on the role of gut immunity, nervous system and motility patterns in the development of feeding intolerance in newborns. Maturation of the GI is important not only for digestion and absorption, but for endocrine and exocrine function as well. There is little data available about the development of the motility function and of the mucosal barrier of the human gut, and in particular about the motility patterns and mucosal changes in newborns during early days of life. It is known that functional maturation of the gastrointestinal tract is quite different over time with respect to its anatomical development. Besides, the gastrointestinal tract through innate and specific immunologic factors, acts as a defense against ingested antigens. In addition to the mucous membrane integrity and digestion, numerous specific immunologic cells and mediators orchestrate such defensive mechanisms. In case of food antigens, the outcome is usually in favor of tolerance. Defects in that barrier, however, can lead to the development of aberrant immunologic responses, including hypersensitivity reactions. It is obvious that an appropriate feeding regimen during early infancy is in favor of food tolerance. However, in addition to genetic predisposition, development of tolerance is facilitated by an adequate gut barrier (immune or nonimmune), well-coordinated GI motility and nervous network, and appropriate food regimen.
Assuntos
Hipersensibilidade Alimentar/congênito , Hipersensibilidade Alimentar/etiologia , Recém-Nascido de muito Baixo Peso/fisiologia , Hipersensibilidade Alimentar/imunologia , Motilidade Gastrointestinal/fisiologia , Trato Gastrointestinal/imunologia , Humanos , Tolerância Imunológica/imunologia , Imunidade/fisiologia , Recém-Nascido , Doenças do Recém-Nascido/etiologia , Doenças do Recém-Nascido/imunologia , Doenças do Recém-Nascido/fisiopatologia , Recém-Nascido de muito Baixo Peso/imunologiaRESUMO
Both genetic and environmental factors seem to predispose to the development of food allergy. A most notable factor is diet, particularly during infancy. Possible other factors include maternal diet during pregnancy and lactation, birth by cesarean section, exposure to tobacco smoke, multivitamin supplementation, and intake of antacids. It is important to identify and control such risk factors to reduce the development of food allergy.