Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED)

SUMMARYAutoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome. Arq Bras Endocrinol Metab. 2012;56(1):54-66 SUMÁRIOSíndrome poliglandular autoimune tipo 1 é uma rara desordem autossômica recessiva caracterizada por ataque autoimune a diversos órgãos. A doença é causada por mutações no gene AIRE (autoimmune regulator), resultando em uma proteína AIRE defeituosa, proteína esta essencial para a manutenção da autotolerância. As manifestações clínicas são extremamente variáveis. A tríade clássica é composta por candidíase mucocutânea crônica, hipoparatiroidismo e insuficiência adrenal, porém diversos outros componentes podem estar presentes. A base do tratamento é a reposição das diversas deficiências, e os pacientes devem ser acompanhados por toda a vida. Este artigo descreve o caso de uma paciente com a síndrome e apresenta uma revisão sobre a epidemiologia, quadro clínico, aspectos imunogenéticos, diagnóstico e tratamento da desordem, de acordo com a literatura publicada. Arq Bras Endocrinol Metab. 2012;56(1):54-66

show abstract

“…Corneal transplantation and treatment with limbal stem cells have been performed in few cases (28,76,77).…”

Section: Treatmentmentioning

confidence: 99%

Autoimmune polyendocrine syndrome type 1: case report and review of literature

Weiler

Silva

Lazaretti-Castro

2012

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

show abstract

“…13 A series of 4 penetrating keratoplasties resulted in graft rejections and a limited visual outcome. 19 Histopathology of corneal buttons taken from patients with APS1, demonstrated vascularization and scarring only in the superficial layers of the corneal stroma. The deep stromal layers, Descemet's membrane, and endothelium appeared normal.…”

Section: Volume 10 Number 6 December 2006mentioning

confidence: 99%

“…The deep stromal layers, Descemet's membrane, and endothelium appeared normal. 19 The poor prognosis with penetrating keratoplasty is probably caused by the unaddressed limbal stem cell deficiency. Limbal stem cell transplantation in conjunction with a penetrating or lamellar keratoplasty may result in a better outcome in patients with limbal stem cell deficiency.…”

Section: Volume 10 Number 6 December 2006mentioning

confidence: 99%

Ocular complications of autoimmune polyendocrinopathy syndrome type 1

Chang

Brosnahan

McCreery

et al. 2006

Journal of American Association for Pediatric Ophthalmology and

View full text Add to dashboard Cite

“…Its structural integrity, shape and transparency are essential to maintain optical performance. Abnormalities in its composition or structure due to disorders or disease such as keratoconus, corneal dystrophy, glaucoma or mass lesions, to name a few, severely degrade vision [3][4][5][6][7]. Ablative laser surgery is widely used to correct refractive performance and improve visual acuity, with more than one million operations in the United States alone each year [8].…”

Section: Introductionmentioning

confidence: 99%