Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients

Asaf Syed; Anurag Rawat; Umer Bin Tariq; Ihteshamul Haq; Beenish Naz; Abrar Hussain; Mehdi Maqsood; Arsalan Rasheed

doi:10.7759/cureus.48564

Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients

Cureus. 2023 Nov 9;15(11):e48564. doi: 10.7759/cureus.48564. eCollection 2023 Nov.

Authors

Asaf Syed¹, Anurag Rawat², Umer Bin Tariq³, Ihteshamul Haq⁴, Beenish Naz⁵, Abrar Hussain⁶, Mehdi Maqsood⁷, Arsalan Rasheed⁸

Affiliations

¹ Medicine and Surgery, Ayub Medical College, Abbottabad, PAK.
² Interventional Cardiology, Himalayan Institute of Medical Sciences, Dehradun, IND.
³ Department of Medicine, Nawaz Sharif Medical College, University of Gujrat, Gujrat, PAK.
⁴ Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, PAK.
⁵ Pharmacology and Therapeutics, Khyber Medical University, Peshawar, PAK.
⁶ Biological Sciences, International Islamic University, Islamabad, PAK.
⁷ Internal Medicine, Khyber Medical College, Peshawar, PAK.
⁸ Molecular Biology and Genetics, Abdul Wali Khan University Mardan, Mardan, PAK.

Abstract

Background Cystic fibrosis (CF) is a genetic disorder with diverse symptoms. Understanding its genetic basis and prevalence is crucial for effective management and treatment. Objective The study aimed to provide comprehensive insights into the frequency of CF gene mutations, clinical presentations, and complications among the Pakistani population. Methodology A cohort comprising 892 patients, ranging in age from 18 to more than 40 years, was selected on the basis of clinical and genetic criteria for the diagnosis of CF. Polymerase chain reaction (PCR) was used to look for 34 variants in the CFTR gene in blood samples. Statistical analysis, which included figuring out the number of mutations, the average age of diagnosis, and the genetic diversity of the samples, was performed to analyze the percentage of patients with specific mutations, offering insights into the genetic diversity. Results In our comprehensive analysis of 892 patient samples, 77.47% (n=691) displayed consanguinity, indicating a family history. The prevailing symptoms included chronic cough (88.67%; n=791), recurrent respiratory infections (76.68%; n=684), and fatigue (73.76%; n=658). The major complications comprised pulmonary infections (22%; n=197), cystic fibrosis-related diabetes (21%; n=187), and malabsorption (20%: n=178). A paired t-test revealed a mean difference of 5.750 with a standard deviation of 9.147, a 95% confidence interval from -0.061 to 11.561, a t-value of 2.178 with 11 degrees of freedom, and a two-tailed p-value of 0.052, suggesting a potential trend towards significance. Nevertheless, the asymptotic significance values of 1.000 and 0.998 for both groups indicate no significant difference. Furthermore, the study identified 12 cystic fibrosis gene mutations, with F508del and N1303K being the most prevalent. Conclusion This research revealed significant consanguinity, confirmed typical CF symptoms, and identified common complications and prevalent CFTR gene mutations (with F508del and N1303K being the most common), providing insights for genetic guidance and treatment in the Pakistani community.

Keywords: cftr; clinical findings; complications; cystic fibrosis; gene mutations; pakistan.