RESUMO
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p.R15H (c.44G>A) was found. In the clinical course of the patient, chronic liver disease due to autoimmune hepatitis has evolved resulting in hepatopulmonary syndrome (HPS) which has not been reported before in patients with APECED.
Assuntos
Biomarcadores/metabolismo , Cianose/etiologia , Síndrome Hepatopulmonar/complicações , Mutação/genética , Poliendocrinopatias Autoimunes/fisiopatologia , Fatores de Transcrição/genética , Adolescente , Cianose/patologia , Feminino , Síndrome Hepatopulmonar/genética , Homozigoto , Humanos , Prognóstico , Proteína AIRERESUMO
Medical records of the 575 children who underwent gastrointestinal endoscopy outside the operating room were investigated retrospectively. The most frequently used combinations were propofol-midazolam-fentanyl in 83.2% of the procedures and propofol-midazolam in 13.8% of the procedures. 24 (3.4%) of 703 procedures had complications due to sedation anesthesia; 11 had hypoxia and 8 had pain in the injection area. Sedation anesthesia practice provided by an anesthesiologist outside the operating room enables gastrointestional endoscopic procedures to be carried out more safely.