Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
Study Details
Study Description
Brief Summary
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is located at 7q31.2 and encodes 1480 amino acids. CFTR protein is responsible for regulating the transport of electrolytes and chloride across epithelial and mucus-producing cell membranes.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
The discovery of the CFTR gene in the late 1980s triggered a surge of basic research that enhanced understanding of the pathophysiology and the genotype-phenotype relationships of this clinically variable disease of cystic fibrosis. More than 2000 variants of CFTR gene have been reported, and they are grouped to six classes depending on the pathophysiology of the CFTR protein ,The most common genetic defect reported in CF is the delta F508 mutation, Moreover, the degree of CF severity depends on the type of mutation, which typically affects the function and quantity of CFTR channels. When the CFTR protein is mutated, chloride ions accumulate in mucus-producing cells, resulting in a thick, sticky mucus that obstructs various pathways and hinders pulmonary, digestive, exocrine and male reproductive functions. Furthermore, mucus buildup increases a patient's susceptibility to airway obstruction, bacterial lung infection, pancreatic insufficiency, malabsorption and infertility. CF is characterized by significant clinical heterogeneity.
Study Design
Outcome Measures
Primary Outcome Measures
- number of patients presented with each presenting symptoms and signs . [6 months]
number of patients with each main presenting symptoms of cystic fibrosis as respiratory distress ,dehydration or others .
- number of patients affected with different genetic mutations causing cystic fibrosis. [6 months]
detecting the different genetic mutations affecting pediatric patients in Sohag
Eligibility Criteria
Criteria
Inclusion Criteria:
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Children and adolescents aged 2 days - 18 year.
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patients clinically suspected or diagnosed with cystic fibrosis
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patients diagnosed with cystic fibrosis and attending or referred to the Pediatric pulmonology clinic at Sohag University Hospital.
Exclusion Criteria:
- Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Sohag University Hospital | Sohag | Egypt |
Sponsors and Collaborators
- Sohag University
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
- Al-Sadeq D, Abunada T, Dalloul R, Fahad S, Taleb S, Aljassim K, Al Hamed FA, Zayed H. Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review. Respirology. 2019 Feb;24(2):127-136. doi: 10.1111/resp.13437. Epub 2018 Nov 12.
- Castellani C, Assael BM. Cystic fibrosis: a clinical view. Cell Mol Life Sci. 2017 Jan;74(1):129-140. doi: 10.1007/s00018-016-2393-9. Epub 2016 Oct 5.
- Proesmans M. Best practices in the treatment of early cystic fibrosis lung disease. Ther Adv Respir Dis. 2017 Feb;11(2):97-104. doi: 10.1177/1753465816680573. Epub 2016 Dec 2.
- Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73. doi: 10.1126/science.2475911. Erratum In: Science 1989 Sep 29;245(4925):1437.
- Soh-Med-22-10-20