Cystic Fibrosis in Egyptian Children: Achievements and Future Directions

Falaki, Mona El; Attar, Mona Mohsen El; Basha, N. El; Refai, Nihal El; Shahin, Walaa; Mohsen, Hanan; Ali, Sara E.; Mustafa, A.; Hamed, Dina H.

doi:10.21608/cupsj.2020.52045.1009

Cited by 2 publications

(2 citation statements)

References 15 publications

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“…The history of Lebanon and Egypt, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. Even though few epidemiological studies were conducted to determine the CF incidence in Lebanon and Egypt, multiple factors advocate that it could be relatively high (3)(4). Both countries are not like other Arab countries and the mutation spectrum in the CFTR gene has been influenced by gene flow coming from different populations.…”

Section: Introductionmentioning

confidence: 99%

Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

Farhat¹,

El-Seedy²,

Pasquet³

et al. 2022

Cell Mol Biol (Noisy-le-grand)

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Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula. The c.3909C>G (N1303K, p.Asn1303Lys) mutation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR). This mutation represents a higher frequency in the Mediterranean countries in association with different polymorphisms or mutations in cis position constituting various complex alleles. N1303K mutation induces many phenotypes, especially pancreatic insufficiency from mild to severe and it is associated in cis with other polymorphisms. The aim of this investigation is therefore to screen complex alleles carrying N1303K mutation among Lebanese, Egyptian and French patients. All exons of the CFTR and their flanking regions were performed by PCR amplification, followed by automated direct DNA sequencing. Two complex alleles are more frequent corresponding to Wild Type and mutated haplotype. Besides that two other very rare complex alleles have been detected, one in Egyptian and French samples, and then another one in Lebanon samples. We have studied their impact on the CFTR mRNA splicing using a minigene strategy. Constructs containing wild-type and mutant CFTR cloned into the pTBNdeI hybride minigene have been expressed in HeLa, HT29 and HEK293 cells. RT-PCR analysis of mRNA using β-globin-specific primers revealed that N1303K and the polymorphisms associated with cis induce weak abnormal splicing and a modification of the quality and the quantity of CFTR protein. These different associations of identified polymorphisms with N1303K in cis could have an impact on the severity of the disease.

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Section: Introductionmentioning

confidence: 99%

Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

Farhat¹,

El-Seedy²,

Pasquet³

et al. 2022

Cell Mol Biol (Noisy-le-grand)

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“…Cystic fibrosis (CF) is an autosomal recessive genetic disorder that compromises life expectancy. Early diagnosis is critical for appropriate and prompt treatment to improve patients' quality of life (2). Lung disease is the main cause of morbidity and mortality in patients with CF, but also many patients present with gastrointestinal, pancreatic and/or hepatic manifestations throughout their lives, which negatively affect the quality of life and survival rate (3).…”

Section: Introductionmentioning

confidence: 99%

The Effect of Nutritional Counseling via Printed Recipe Cards Versus Verbal on Growth of a Cohort of Egyptian Children with Cystic Fibrosis

Hamed,

Hamdi,

Saeed

et al. 2022

Pediatric Sciences Journal

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Background: Nutritional management in cystic fibrosis children has a dramatic effect on growth and survival. Aim of the work: to assess the effect of structured recipe cards nutritional protocol versus verbal nutritional counselling on growth of children cystic fibrosis (CF). Methods: We prospectively studied a cohort study of 40 children recruited from the CF Clinic and following at Nutrition Clinic, Children`s hospital, Cairo University whose caretakers were counselled and were provided with ready-made multiple calculated recipe cards that allowed preparation of specific meals to ensure adequate salt supplementation, high calorie, high fat diet and pancreatic enzyme dose of (1000IU lipase per 1g fat). Anthropometric parameters were recorded at the beginning, after 3 months and 6 months and compared to those of a historical cohort of 13 children with CF who received verbal nutritional counselling only. Results: Malnutrition was highly prevalent with 64% of patients underweight and 70% stunted. Weight z-score, height z-scores, body mass index z score and middle upper arm circumference improved from -2.64, -2-77, -1.41 to -1.9, -2.22, -1 (p<0.001, p= 0.008, p<0.001) respectively after the intervention. Statistically significant elevation of hemoglobin, albumin and sodium from 11.49gm/dl, 3.85g/dl, 136.6mEq/l to 12.3, 4.44, 139 (p<0.001, p<0.001, p=0.04) respectively and statistically significant reduction of total leucocytic count (TLC), C-reactive protein and CRP/ albumin ratio were detected after the intervention. There was no difference between achieved weight, height and BMI z-scores between both groups (p=0.485, p=0.499 and p=0.227 respectively). Mean care taker nutritional counseling session time was 17.9 ±3.8 min for those who received the recipe cards, which was significantly shorter than the mean (48.2±7.3 min) of the other group (p<0.001). Conclusion: Optimization of nutritional status in children with CF patients resulted in significant improvement of anthropometric, laboratory and inflammatory parameters. Providing care takers with recipe cards allowed shorter counselling session time, and achieved same positive effect on growth as those verbally instructed without recipe cards.

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Cystic Fibrosis in Egyptian Children: Achievements and Future Directions

Cited by 2 publications

References 15 publications

Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

The Effect of Nutritional Counseling via Printed Recipe Cards Versus Verbal on Growth of a Cohort of Egyptian Children with Cystic Fibrosis

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