Cystic fibrosis prevalence among a group of high-risk children in the main referral children hospital in Iran

Background Cystic fibrosis (CF) is a monogenic hereditary disease with diverse complications, which substantially reduce the quality of life and longevity of patients. With regard to the scarcity of information on epidemiological aspects of this disease in Iran, we aimed to examine the current status of pediatric CF patients in a tertiary referral center in south Iran. Results Medical records of 105 patients (51% female) with the mean age of 16.3 ± 34.4 months were reviewed. Twelve patients (13.3%) had siblings with CF. Failure to thrive and respiratory symptoms were the most common presentations. Elevated liver enzymes and steatorrhea were detected in over half of tested patients, while abnormal serum albumin level, urinalysis, positive urine cultures, and positive acute phase reactants were noticed in less than half of the patients. Mild increase in pulmonary artery blood pressure was the most common finding of echocardiography. Increased liver echogenicity was the top finding of abdominopelvic sonography. Out of 42 available patients, 19 (45.2%) died with the mean age of 54.4 ± 101.8 months. The highest rate of mortality was observed in the 2–6 years old age group (42.9%). Conclusion Increased liver echogenicity was the most common finding in hepatobiliary evaluation. Mild increase in pulmonary artery blood pressure was the most common finding of echocardiography.

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The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia

Jafari

Safinejad

Nasiri

et al. 2022

JMedLife

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Due to progress in infertility etiology, several genetic bases of infertility are revealed today. This study aimed to investigate the distribution of mutations in the CFTR gene, M470V polymorphism, and IVS8 poly T. Furthermore, we aimed to examine the hotspot exons (4, 7, 9, 10, 11, 20, and 21 exons) to find a new mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene among infertile Iranian men very severe oligozoospermia (<1 million sperm/mL ejaculate fluid). In the present case-control study, 200 very severe oligozoospermia (20–60s) and 200 fertile men (18–65s) were registered. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The M470V polymorphism was checked out by real-time PCR, and poly T and exons were sequenced. The F508del was the most common (4.5%) CFTR gene mutation; G542X and W1282X were detected with 1.5% and 1%, respectively. N1303K and R117H were detected in 0.5% of cases. F508del was seen as a heterozygous compound with G542X in one patient and with W1282X in the other patient. Also, in the case of M470V polymorphism, there are differences between the case and control groups (p=0.013). Poly T assay showed statistical differences in some genotypes. The study showed no new mutation in the exons mentioned above. Our results shed light on the genetic basis of men with very severe oligozoospermia in the Iranian population, which will support therapy decisions among infertile men.

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Cystic fibrosis prevalence among a group of high-risk children in the main referral children hospital in Iran

Cited by 6 publications

References 20 publications

Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis

Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis

Clinical manifestation, laboratory findings, and outcome of children with cystic fibrosis over a 10-year period in South Iran

The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia

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