Malabsorption Due to Cholecystokinin Deficiency in a Patient with Autoimmune Polyglandular Syndrome Type I

Autoimmune polyglandular syndrome type I is an autosomal recessive inherited disease caused by mutations in the autoimmune regulator gene. 1 Its hallmarks are the failure of multiple endocrine glands due to an autoimmune process, susceptibility to chronic candida infection because of a T-cell defect, and dystrophy of ectodermal tissues. 2 The most common endocrine manifestations are hypoparathyroidism and adrenal failure. Hypogonadism, hypothyroidism, type 1 diabetes mellitus, and hypopituitarism may also occur. Nonendocrine manifestations include enamel hypoplasia, nail dystrophy, keratoconjunctivitis, and pernicious anemia. 2 , 3 Except for candidiasis, patients with this syndrome have no apparent susceptibility to infections. About 20 percent of patients with . . .