Autoimmune polyglandular syndrome type 1 in Saudi children.

Abstract

OBJECTIVE:

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.

CONCLUSION:

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.

• Authors: Bassam S Bin-Abbas, Muhammad Faiyaz-Ul-Haque, Abdullah H Al-Fares, Sulaiman S Al-Gazlan, Jalaluddin A Bhuiyan, Saleh Z Al-Muhsen
• Journal: Saudi medical journal (Saudi Med J) Vol. 31 Issue 7 Pg. 788-92 (Jul 2010) ISSN: 0379-5284 [Print] Saudi Arabia
• PMID: 20635013 (Publication Type: Journal Article)

Topics

• Adolescent
• Child
• Child, Preschool
• Enzyme-Linked Immunosorbent Assay
• Female
• Humans
• Male
• Pedigree
• Polyendocrinopathies, Autoimmune (epidemiology)
• Saudi Arabia (epidemiology)