RESUMEN
Necrotizing enterocolitis (NEC) is a main cause of morbidity and mortality in neonatal intensive care units. Etiology is likely to be multifactorial and prematurity and low birth weight (<1500 g) are risk factors already recognized. The studies conducted on the role of genetic factors in the pathogenesis of the disease led to contradictory outcomes, even if interesting hints emerged to encourage future research. The aim of the present review was to update on genetic research in NEC, focusing on the evidences arisen from the studies on the main risk factors (prematurity and ischaemia) and inflammatory mediators.
Asunto(s)
Enterocolitis Necrotizante/epidemiología , Enterocolitis Necrotizante/genética , Enterocolitis Necrotizante/inmunología , Enterocolitis Necrotizante/terapia , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/epidemiología , Enfermedades del Prematuro/genética , Factores de RiesgoRESUMEN
Mother-to-infant transmission of Hepatitis C Virus (HCV) represents the major cause of pediatric HCV infection today. Immunogenetic influence has been poorly investigated and mainly confined to HLA-class II serological polymorphisms. Among 290 parities, 135 from Pavia and 155 from Bergamo, of HCV-RNA-infected Italian women, 21 babies (7.24%) were HCV-RNA positive at birth and steadily positive over 20 months of life. All the 21 infected babies and 44 randomly selected uninfected ones, born to HCV-RNA+ mothers but steadily negative for HCV-RNA during a follow-up of 2 years, and their mothers were investigated for HLA-G, -C, -DRB1, -DQA1 and -DQB1 genomic polymorphisms. Among the different covariates, HLA-Cw*07, -G*010401, -DRB1*0701, -DRB1*1401 and homozygosity for HLA-G 14bp deletion can be considered as risk factors for HCV vertical transmission. On the contrary, protection was conferred by the HLA-DQB1*06, -G*0105N, -Cw*0602, DRB1*1104 and -DRB1*1302 alleles. Our initial question was: has the immunogenetic profile any role in the protection of the fetus growing in an infected milieu and, if so, is it independent from the other non-immunogenetic parameters? The answer to both questions should be yes.