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The Correlation between Genetic and Pulmonary Phenotype in Children with Cystic Fibrosis
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Rohola Shirzadi   |
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Abstract: (50 Views) |
Background: Cystic Fibrosis (CF) is the most common life-limiting recessive inherited disease that induced by more than 1500 mutation in CFTR genes. Studies investigating the relationship between genotype and pulmonary phenotype in CF patients are limited. This study endeavored to investigate this relationship in CF children.
Methods: A This cross-sectional study involved children with CF who were referred to the pulnmonary clinic of Children’s Medical Center. CF patients were categorized into two according to the final CFTR mutation analysis: patients with preserved CFTR protein expression (class III, IV, V) and groups without CFTR protein (class I, II). Spirometric values were compared between two groups.
Results: Patients of class I and class II had significantly lower spirometric values (FEV1 and FVC) compared with patients with class III, IV, or V mutations.
Conclusion: These findings indicate the role of CFTR protein in maintaining lung function in CF patients with mutation classes III, IV and V. CF patients of class I and II mutations have more severe respiratory disease and need intensive pulmonary care from birth or early childhood.
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Article number: 3 |
| Keywords: Cystic Fibrosis, CFTR Mutation, Spirometric Values |
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Full-Text [PDF 727 kb]
(29 Downloads)
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Type of Study: Research |
Subject:
General
Received: 2026/06/25 | Accepted: 2025/08/1 | Published: 2026/06/25
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