Nutrional status and dietary factors in cystic fibrosis patients with delta F508 mutation
نویسندگان
چکیده
منابع مشابه
Mutation in ∆f508 : a Major Cause of Cystic Fibrosis
Cystic fibrosis is the most common serious inherited disorder or autosomal recessive disorder. This disorder is appearing when the CFTR [cystic fibrosis transmembrane conductance regulator] gene mutation is takes place. The CFTR gene is responsible for the formation of CFTR protein which is normally required for the regulation of sweat, mucus and some other body fluids, CFTR protein act as a ch...
متن کاملDetection of cystic fibrosis delta F508 mutation by anti-double-stranded DNA antibody.
This study evaluated an enzyme immunoassay (EIA) as a screening tool for detection of the most common mutation (delta F508) in cystic fibrosis (CF). Guthrie card bloodspots were extracted to remove whole blood polymerase chain reaction (PCR) inhibitors. The washed filter paper was directly amplified under standard (98 bp amplicons) or modified PCR conditions (491 bp amplicons) for the delta F50...
متن کاملAnalysis of the delta F508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients.
Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment were enrolled for genetic and clinical evaluation. Genetic analysis was performed on blood samples stored on neonatal screening cards using PCR techniques to determine the presence of delta F508 mutations. Clinical evaluation included Shwachman and Chrispin-Norman scores, age at onset of symptoms and diagnosis, spi...
متن کاملIvacaftor and sinonasal pathology in a cystic fibrosis patient with genotype delta F508/S1215N
In patients with Cystic Fibrosis and a type III mutation, ivacaftor (Kalydeco(®), Vertex) can increase the opening time of the CFTR channel and improve chloride transport. Research showed significant improvement of lung function and increase in weight following ivacaftor use. However, ivacaftor showed to have adverse events on the sinonasal system as well, such as upper respiratory tract infect...
متن کاملLow Bone Mineral Density and Associated Factors in Patients with Cystic Fibrosis: A Cross-Sectional Study
Background: Failure to maintain bone mass density is a major complication in patients with cystic fibrosis (CF). This study was conducted to evaluate the prevalence of low bone mineral density (BMD) and also identifying associated risk factors in CF patients. Materials and Methods: Present study conducted on 59 CF patients aged 5-35 years referred to respiratory clinic of Masih Daneshvari Hospi...
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ژورنال
عنوان ژورنال: Revista de Nutrição
سال: 2015
ISSN: 1415-5273
DOI: 10.1590/1415-52732015000400003