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Autoimmune enteropathy in Schimke immunoosseous dysplasia

✍ Scribed by Kaitila, I.; Savilahti, E.; �rm�l�, T.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
31 KB
Volume
77
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980605)77:5<427::aid-ajmg14>3.0.co;2-k

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✦ Synopsis

The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.

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