RT Journal Article
SR Electronic
T1 Autoimmune polyglandular syndrome type 1 in Saudi children.
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 788
OP 792
VO 31
IS 7
A1 Bassam S. Bin-Abbas
A1 Muhammad Faiyaz-Ul-Haque
A1 Abdullah H. Al-Fares
A1 Sulaiman S. Al-Gazlan
A1 Jalaluddin A. Bhuiyan
A1 Saleh Z. Al-Muhsen
YR 2010
UL http://smj.org.sa/content/31/7/788.abstract
AB OBJECTIVES: To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 (APS-1) in a Saudi population.METHODS: The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years (January 2000 to December 2009). The age of the affected children ranged from 2-17 years. The included patients had at least 2 out of the 3 major clinical diagnostic criteria of APS-1.RESULTS: Fourteen children had neonatal chronic mucocutaneous candidiasis affecting the nails and mouth. The most commonly presenting endocrine disease among APS-1 patients was hypoparathyroidism. Eight patients had autoimmune Addison's disease. Hypothyroidism was diagnosed in 3 patients, and 9 patients had alopecia universalis. Other endocrine and autoimmune disorders were infrequently seen including type 1 diabetes, growth hormone deficiency, celiac disease, autoimmune hepatitis, and keratoconjuctivitis.CONCLUSIONS: Autoimmune polyglandular syndrome type 1, although an uncommon disorder in Saudi children affects multiple endocrine glands, and is associated with several autoimmune diseases where alopecia universalis is a common finding.