Clinical and genetic features in patients with cystic fibrosis in southwestern Iran

Cystic fibrosis [CF] is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory [CFTR] gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran. Twenty nine common CFTR gene mutations were examined in 45 CF patients. Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was deltaF508, with an allele frequency of 21%. The homozygous deltaF508 mutation was observed in eight patients [18%], and three patients [7%] were deltaF508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a deltaF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a deltaF508 carrier. Out of 45 patients, 27 [60%] had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations

Disease spectrum and mortality in hospitalized children of southern Iran

In medicine, especially in the field of pediatrics, it is necessary to perform regular epidemiologic studies in each geographic region. We designed this study in Nemazee Hospital, Shiraz [the major referral pediatric center in Southern Iran], to determine the disease spectrum, the mortality and also the rate of matching final diagnosis with the initial impression in pediatric wards. All children older than 1 month [2731] who were admitted in Nemazee Hospital [except for surgical wards], from November 2005 to October 2006, were studied through questionnaire interviewing on admission and were followed till discharge or expire time. In some instances that final diagnosis or cause of death was unclear; we followed them through their files in clinics up to 1 year. Among 3057 admissions [related to 2731 patients], 56.8% were males [male to female ratio: 1.31]. Patients' age was 31 days to 25 years [mean: 5.16 years, SD: 4.98 years] and the significant portion was less than 2 years [1210= 44.2%]. Admission duration varied from 1 to 62 days [mean: 5 days, SD: 5.13 days]. The most common diseases were seizure disorder [315=11.1%], pneumonia [235=7.7%], febrile convulsion [136=4.79%] and gastroenteritis [128=4.18%]. 17.93% of admissions came out of Pars Province [18 Provinces] with digestive system [19.1%], infectious [18.5%] and nervous system diseases [15.0%] as the most frequent referred patients. In 90.6% of admissions final diagnosis was clarified in the hospital [ranged from 86.45% in infectious ward to 93.4% in cardiology ward] [P=0.01]. The total mortality rate was 5.30%; this rate was 9.49% for patients younger than 1 year and 5.0% in older patients [P<0.001]. The most common age of admission in pediatric wards was less than one year. The most common diseases were seizure disorder, pneumonia and gastroenteritis. Congenital heart disease, sepsis and pneumonia were the most common diseases leading to death