PT  - JOURNAL ARTICLE
AU  - Bin-Abbas, Bassam S.
AU  - Faiyaz-Ul-Haque, Muhammad
AU  - Al-Fares, Abdullah H.
AU  - Al-Gazlan, Sulaiman S.
AU  - Bhuiyan, Jalaluddin A.
AU  - Al-Muhsen, Saleh Z.
TI  - Autoimmune polyglandular syndrome type 1 in Saudi children.
DP  - 2010 Jul 01
TA  - Saudi Medical Journal
PG  - 788--792
VI  - 31
IP  - 7
4099  - http://smj.org.sa/content/31/7/788.short
4100  - http://smj.org.sa/content/31/7/788.full
SO  - Saudi Med J2010 Jul 01; 31
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.