RESUMO
This report shows the absolute genetic linkage of celiac disease (CD) to the HLA-DQ region, and supports the fact that dermatitis herpetiformis (DH) follows the same pattern of HLA-mediated susceptibility in extensive series of Caucasian Spanish patients. Ninety-five percent of CD (201 of 212) and 100% of DH (55) patients could produce DQ alpha 1*0501-DQ beta 1*02 heterodimers. Negative CD patients for this combination were mostly DR4-DQ8 (DQA1*03-DQB1*0302) (9 OF 11), along with a restricted number of complementary chromosomes. Comparison of observed and expected DQA1-DQB1 genotype distributions (Hardy-Weinberg equilibrium) showed that the excess of patients with DQB1*02 in double doses would be the consequence for which this allele should be complemented by DQA1*0501. Homozygosity for DQA1*0501 would restrain susceptibility to CD and DH.
Assuntos
Doença Celíaca/genética , Dermatite Herpetiforme/genética , Ligação Genética , Antígenos HLA-DQ/genética , Alelos , Haplótipos , HumanosRESUMO
We present our experience with 5 pediatric patients, 3 males and 2 females, with alpha 1 antitrypsin deficiency. These patients were between the ages of 15 months and 8 years and 4 were of the PI ZZ phenotype and 1 of the PI SZ phenotype. All cases presented with liver disease (neonatal cholestasis, cirrhosis, hepatitis). We comment on the different clinical forms of this entity during childhood, most of which are liver diseases, whereas in the adult it is generally manifest as lung disease.
