Cystic fibrosis vigilance in Arab countries: The role of genetic epidemiology

Pallin, Michael

doi:10.1111/resp.13461

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…Our report highlights the importance of an extended gene mutation search in patients with abnormal sweat tests and the phenotypic manifestations of CF. It also reiterates the importance of reporting novel molecular epidemiological data to increase awareness about CF in the Arab world [15].…”

Section: Discussionmentioning

confidence: 87%

Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child

Francis¹,

Yavuz²,

Elnazir³

2023

Cureus

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Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is the most common inherited disorder in the Caucasian population, with around 2000 mutations identified for the CFTR gene. The precise prevalence of CF in Arab countries remains unknown, with the prevalence of F508 del found to be a common type with other endemic mutations.We describe the case of a CF patient who was diagnosed at the age of seven years. She presented post-cardiac surgery for further evaluation for a recurrent chest infection and subtle dysmorphic features. CF genetic testing for the most common 31 mutations (CF panel) was negative, and a novel mutation was identified on CFTR gene sequencing.

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Section: Discussionmentioning

confidence: 87%

Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child

Francis¹,

Yavuz²,

Elnazir³

2023

Cureus

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“…The prevalence of CF in Arab countries is estimated to range from 1:2,560 to 1:15000 [1,2] (Table-1), likely owing to ethnicity and the degree of consanguinity which is estimated at approximately 65% [3]. In the UAE, the prevalence of CF was estimated to be 1 in 15,876 [4].…”

Section: Demographics Incidence/prevalence Survivalmentioning

confidence: 99%

Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

Banjar

Kadan

Al-Abdaly

et al. 2020

Asp J Pediatrics Child Health

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Introduction: Cystic Fibrosis has been reported before in almost all Arab countries with an incidence ranges from 1:2500- 1:7000. Presentations varied, but mainly due to recurrent chest infection and Pancreatic Insufficiency. Median survival has been far below North American countries. Delayed diagnosis and delayed management account for the low median survival. Objectives: To present the demographic data of Cystic Fibrosis patients and their families, that involves their social status and education. Methodology: A retrospective chart review as part of the Cystic Fibrosis registry data from the period January 1998 to December 2018. All confirmed CF patients of all age groups who contributed their demographic information were included and analyzed. Results: A total of 430 confirmed Cystic Fibrosis patients. 236 (96%) patients survived, and 10 (4%) died. Two hundred and thirteen (49.5%) were males, and 217 (50.5%) were females. Eighty-three percent consanguinity rate. Forty-five had a family history of Cystic Fibrosis, and the diagnosis was suggested by family history in 9.5% of patients. 415 (98.1%) were of Saudi nationality. 156 (36.5%) were from the Eastern province. The mean age at diagnosis was 3.46 years (SD±5.547). Median survival around 22 years. Mean Sweat chloride was 92.04 mmol/ L (17.343). In reviewing the educational level of 247 patients, the level of elementary school accounted for 90 (36.1%) of patients, 24 (9.7%) of mothers, and 21 (8.5%) of fathers. Similarly, 43 (17.4%)/ 22 (8.9%)/ 102 (41.3%) were in the preparatory level, 35 (14.3%)/ 43 (17.4%)/ 51 (20.6%) were in the high school level, and 23 (9.3%)/ 39 (15.8%)/ 46 (18.6%) were in the college level, respectively. Regarding the employment: 145 (58.7%) patients are students, 3 (1.2%) are part-time employees, and 15 (6.0%) are full time employees. 207 (83.8%) mothers are housewives, 2 (0.8%) are students, and 29 (11.7%) have full-time employment. Paternal employment showed that 210 (85.0%) are full time, and 7 (2.8%) are part-time employees. Regarding their accommodation: 77 (31.2%) of Cystic Fibrosis parents owned a villa, 81 (32.8%) rented an apartment, and 79 (32%) owned their own apartment. Conclusion: More than 2/3 of CF patients are students at the elementary school level, and only 6.0% have a full-time job, which makes them completely dependent on both parents for their care. Median survival improved from 8 years in 1984 to 22 years. Further efforts need to be applied to different aspects of care to further improve median survival.

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

AbdulWahab

Al-Naimi

Habra

et al. 2021

Qatar Medical Journal

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Cystic fibrosis vigilance in Arab countries: The role of genetic epidemiology

Abstract: See related https://onlinelibrary.wiley.com/doi/10.1111/resp.13437

Cited by 3 publications

References 6 publications

Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child

Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child

Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

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