RESUMEN
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations. In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, adrenal insufficiency, and candidiasis as the main clinical manifestation.
Asunto(s)
Poliendocrinopatías Autoinmunes/diagnóstico , Poliendocrinopatías Autoinmunes/genética , Factores de Transcripción/genética , Adulto , Autoanticuerpos/sangre , Citocinas/inmunología , Homocigoto , Humanos , Masculino , Mutación , Linaje , Poliendocrinopatías Autoinmunes/patología , Poliendocrinopatías Autoinmunes/terapia , Proteína AIRERESUMEN
BACKGROUND: Infective endocarditis (IE) is a serious complication in immunosuppressive patients that has adverse effects. OBJECTIVES: The aim of this study was to define the characteristics, outcomes, and correlating factors of mortality in renal transplant recipients. PATIENTS AND METHODS: Infective endocarditis was diagnosed in 22 patients from three renal transplant centers in Iran between 2000 and 2010. Modified Duke criteria were applied to confirm the diagnosis. RESULTS: Twenty-two renal transplant patients with IE were evaluated. Blood culture results were positive in 81%. Enteroccous and group D non-enterococcal were the causative microorganisms in 31% and 25% of patients, respectively. In-hospital and 12-month mortality was 41% and the mortality rate was higher in older patients in comparison to younger patients. Overall, the rates of one-year disease-free patient and graft survival were 49% and 88%, respectively. CONCLUSIONS: Despite the availability of different and potent antibiotics, the mortality caused by IE remains considerably high. These patients are significantly prone to endovascular infections that affect the mortality and survival.