Malabsorption Due to Cholecystokinin Deficiency in a Patient with Autoimmune Polyglandular Syndrome Type I
Christoph Hogenauer, M.D., Richard L. Meyer, M.D., George J. Netto, M.D., Diana Bell, M.D., Katherine H. Little, M.D., Laura Ferries, M.D., Carol A. Santa Ana, B.S., Jack L. Porter, M.S., and John S. Fordtran, M.D.
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Autoimmune polyglandular syndrome type I is an autosomal recessiveinherited disease caused by mutations in the autoimmune regulatorgene.1 Its hallmarks are the failure of multiple endocrine glandsdue to an autoimmune process, susceptibility to chronic candidainfection because of a T-cell defect, and dystrophy of ectodermaltissues.2 The most common endocrine manifestations are hypoparathyroidismand adrenal failure. Hypogonadism, hypothyroidism, type 1 diabetesmellitus, and hypopituitarism may also occur. Nonendocrine manifestationsinclude enamel hypoplasia, nail dystrophy, keratoconjunctivitis,and pernicious anemia.2,3 Except for candidiasis, patients withthis syndrome have no apparent susceptibility to infections.
From the Departments of Internal Medicine (C.H., K.H.L., C.A.S.A., J.L.P., J.S.F.) and Pathology (R.L.M., G.J.N., D.B.), Baylor University Medical Center, Dallas; and the Deaconess Billings Clinic, Billings, Mont. (L.F.).
Address reprint requests to Dr. Fordtran at Baylor University Medical Center, 3500 Gaston Ave., Dallas, TX 75246.
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