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Familial Infantile Diabetes and Autoimmune Enteropathy: Clue to a Possible X-Linked Multiple Autoimmune Disease Syndrome 423

We report a case of a child diagnosed with insulin dependent diabetes mellitus at 12 days of age who was subsequently diagnosed as having autoimmune enteropathy. He presented at five years of age with intractable diarrhea which was unresponsive to steroids and gluten free diet. Biopsy of the mucosa of the small bowel showed total villous atrophy. Anti-enterocyte antibodies were present. The enteropathy was eventually controlled with cyclosporine. The child had also been diagnosed with autoimmune glomerulonephritis. The patient's family history revealed a maternal uncle who had been diagnosed with insulin dependent diabetes at 38 days of age and who had manifested symptoms of other autoimmune disease. Because we were aware of reports of infantile diabetes and autoimmune enteropathy occurring in an apparent familial X-linked recessive pattern, we undertook a review of the medical literature to attempt to identify additional such patients. We used the following criteria to identify probable cases of this syndrome: The patient must have had autoimmune enteropathy and/or infantile diabetes; both disorders must be present in the patient and/or the patient's family history, and there must be more than one affected family member. According to this criteria, we identified a total of 31 probable cases in nine kindreds (including our cases), all occurring in males. Three reported kindreds demonstrated an X-linked recessive pattern of inheritance, accounting for 19 of the 31 cases. Because of the rarity of these disorders, their occurrence together in a family is strong evidence for the presence of a single genetic pathogenesis for the observed autoimmune disease, and we believe that these patients therefore all suffer from a single unique previously undefined X-linked syndrome. The above listed criteria represent the optimum clinical basis upon which these patients may be identified. We also make the following recommendations: 1. A careful family history for infantile diabetes and autoimmune enteropathy should be obtained in all cases of males diagnosed with either of these disorders. 2. All males with infantile diabetes and a positive family history should be closely observed for the development of other autoimmune disorders, particularly autoimmune enteropathy. 3. All patients diagnosed with autoimmune enteropathy who meet the above criteria should be treated aggressively. 4. Further research is needed to determine the precise nature of the genetic and immune system defects that result in this disorder.