[Discrepancy of celiac disease presentation in monozygotic twins].
BACKGROUND
The celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. Despite the genetic characteristic of the disease, studies show discrepancy of 30% in its presentation in monozygotic twins.


OBJECTIVE
To present two pairs of monozygotic confirmed by genetic study and discordant for presentation of celiac disease.


METHODS
The patients were followed up at the Pediatric Gastroenterology Service - Hospital das Clínicas da Universidade Federal de Minas Gerais, MG, Brazil, since 1990, and were submitted to periodical clinical examinations, intestinal biopsies and serology for IgA and IgG antigliadin antibodies, determined by the ELISA technique, and IgA antiendomysial, determined by indirect immunofluorescence. Genetic study was conducted by the technique of amplification by PCR and later typing loci of microsatellites type of STR (short tandem repeats).


RESULTS
In each pair of twins only one has presented celiac disease so far, demonstrating that despite the identical genotype, it was not the single determinant to express the condition.


CONCLUSIONS
Other environmental and genetic factors might contribute to determining the disease.
Bahia
Magda
M
Serviço de Gastroenterologia Pediátrica, Faculdade de Medicina, Universidade Federal de Minas Gerais (FM-UFMG), Belo Horizonte, MG, Brasil. mbahia@medicina.ufmg.br
Penna
Francisco José
FJ
Del Castillo
Dora Mendez
DM
Hassegawa
Marina Guimarães Corrê
MG
Vieira
Aline Cristina
AC
Orlando
Vanessa Ribeiro
VR
D000293:Adolescent; D001323:Autoantibodies / Q000097:blood*; D001706:Biopsy; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005838:Genotype; D005903:Gliadin / Q000276:immunology*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007223:Infant; D012307:Risk Factors; D014430:Twins, Monozygotic / Q000235:genetics*; D055815:Young Adult
D001323:Autoantibodies; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D005903:Gliadin