Incidence of cystic fibrosis in Bahrain

SN Comprehensive Clinical Medicine

Cystic fibrosis (CF) is a genetic autosomal recessive disease that involves multiple systems. Both life quality and expectation are affected by the debilitating multi-system involvement of the disease which includes pulmonary, gastrointestinal, reproductive, and endocrine symptoms. Very few studies have covered the epidemiological aspects of the disease among Arab countries. To systematically review the available epidemiological literature on cystic fibrosis in order to describe the epidemiological state of this disease in the Arab world, this review used PubMed to search for relevant articles related to patients with cystic fibrosis, with no restriction on gender or age. Google scholar and the snowballing technique were used to locate further articles. A total of 17 articles met the inclusion criteria for this review. These articles were from Bahrain, Egypt, Jordan, Kuwait, Morocco, Oman, Saudi Arabia, Tunisia, and the United Arab Emirates. The articles scored 1.5–6.5 out of 8 on t...

Multidisciplinary Respiratory Medicine

Cystic fibrosis (CF) is a genetic disease caused by a defect of CF transmembrane conductance regulator (CFTR) gene. CF affects multiple systems, predominantly with respiratory involvement. In Qatar, researchers have been exploring various aspects of the disease for almost 20 years. PubMed and Google Scholar were reviewed for articles related to CF in Qatar. The first publication appeared in the year 2000. Since then, several studies have been conducted on CF patients in Qatar considering a variety of topics. The presence of the CFTR I1234V mutation in a certain Arab tribe stands out as a distinguishing characteristic of CF patients in Qatar when compared to the larger Arab region or even worldwide. We aim here to summarize the existing CF research conducted in Qatar over the years as well as to introduce topics for future research.

Egyptian Journal of Medical Human Genetics, 2021

Although there is relatively much information about the status of cystic fibrosis disease in different countries of the world, limited data are available on this disease among Syrian children. Therefore, we did a retrospective study that included 173 children diagnosed with cystic fibrosis according to the diagnostic criteria. This study was conducted to determine the diagnostic, clinical, and genetic characteristics of patients with cystic fibrosis in Syria and to assess the relationship between the genotype and the phenotype of disease in these patients. As a result of the early classical manifestations, CF diagnosis was established in the present study by the age of 1 year in 78.6%; the mortality rate was 23.1% (82.5% of them were in the first year of life). The prevalence of respiratory and gastrointestinal symptoms was 81.5% and 78.6%, respectively with an average age of 7.8 and 3.4 months. Consanguinity was reported in 75.7% of the families. The most common pathogenic variant ...

To determine the distribution, trend, manifestations, prognosis and genetic determinants of cystic fibrosis (CF) diseases in the past ten years (2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016)(2017)(2018)(2019) in The Gaza Strip (GS).

International Journal of Pediatrics, 2019

Background Cystic fibrosis (CF) is the most prevalent lethal chronic genetic and multivariate disease, widespread in Iranian population. The aim of this study was to evaluate the condition of patients with CF from various dimensions in the last decades in Iran. Materials and Methods In this cross-sectional study the data were collected from disease registrydatabase of CF patients in Pediatric Respiratory Disease Research Center in Masih Daneshvari, Tehran, Iran. The patients were divided into female and male.The data were collected based on province, birthplace province, marital status, and degree of education, parental consanguinity ratio, age, and age of onset of symptoms, age of onset of diagnosis and body mass index (BMI). Results Majority of patients (n=169, 59.3%) were male, born in Tehran province (n=81, 28.4%), and live in Tehran province (n=102, 35.8%). Majority of parents (61.1%, n=174) had consanguineous relation and the rest (n=94, 33%) did not have any consanguineous re...

African Health Sciences, 2018

Background: Cystic fibrosis is rare in Tunisia.Its diagnosis requires experienced specialists. Its prognosis is poor in developing countries. Objectives: To study the epidemiologic, clinical, genetic features and the therapeutic challenges of cystic fibrosis in Tunisian children. Methods: Covering a period of 21 years, this retrospective study included all patients with a definite diagnosis of cystic fibrosis from the Pediatrics Department B of The Children's Hospital of Tunis. Results: Data from 32 children (14 boys and 18 girls) were collected. The diagnosis was made during the first year of life in 28 cases. Meconium ileus was found in 5 cases, respiratory manifestations in 22 cases, chronic diarrhea in 19 cases, faltering growth in 17 cases and a pseudo Barter syndrome in 2 cases. The sweat chloride test was positive in all cases. The most frequent mutation was F508del (56% of cases). Respiratory complications marked the outcome. Among our 32 patients, 15 patients (50%) died at an average age of 5 years and 3 months, mainly due to respiratory failure. The mean age of the surviving patients was 5 years. Conclusion: Cystic fibrosis prognosis is poor in our series compared to developed countries due to the longer diagnostic delay and the limited therapeutic options.

Journal of Advanced Research, 2014

African Health Sciences

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization. Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children’s departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients’ medical records. Results: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diag- nosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/ or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and...

Pediatric Sciences Journal, 2020

Cystic fibrosis (CF) is the most common potentially lethal and life-shortening genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Clinical consequences of the CFTR defect are site-specific and range from severe (lungs, pancreas, male reproductive tract) to mild (intestine) to asymptomatic (sweat glands). In many developing countries CF has remained largely unrecognized, and inadequately managed, resulting in avoidable death or suffering in infancy, childhood, and adulthood. Delivering adequate CF services is met by substantial difficulties as the spectrum and distribution of CF in Egypt are still not well known. Against this background, the aim of this work is to emphasize the challenges facing initiation of a CF center in low privileged settings with the objectives of improving diagnosis, survival, and to eventually provide optimum management. Strategies for the implementation and development of CF services, as well as proper collection and documentation of patient data are therefore of vital importance. The characterization of the prevalence and molecular genetics of CF in Egypt is of utmost importance so that appropriate genetic counseling to CF patients and their families can be achieved and to pave the way for new treatment modalities.

Sudanese journal of paediatrics, 2014

Cystic fibrosis is the most common severe genetic disorder among children of European descent. It is much less common in Africans and Asians. It affects most critically the lungs causing chronic lung disease, failure to thrive and social deprivation. This is a retrospective review of 35 Sudanese patients with confirmed cystic fibrosis. About 60% of cases presented before the age of 5 years and male to female ratio was 1.7:1.0. Consanguinity was reported in 25 of the families. The main presenting features were productive cough, wheeze and clubbing. The chest X-ray showed variable degrees of hyperinflation, collapse, cystic, fibrotic changes and bronchiectasis involving both upper and lower lobes with blurring of cardiac border and hilar vasculature in the majority of cases. The sweat chloride was between 70 and 140 mmol/l in 83% of the patients (positive > 60 mmol/l). Three patients underwent DNA study and confirmed to have cystic fibrosis transmembrane conductance regulator (CFTR...