الفهرس 
? Cystic fibrosisOnly 14 pages are availabe for public view
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Abstract
C
ystic fibrosis (CF) is the most common fatal genetic disorder in the Caucasian population, with a carrier rate of approximately five percent and an annual incidence of one in 2,500 live births.
This autosomal recessive disorder is caused by mutations in a single gene located on chromosome 7, which encodes for the cystic fibrosis transmembrane regulator protein (CFTR). More than 1500 different mutations have been identified.Abnormalities in the CFTR leads to decreased chloride secretion and increased sodium absorption in these cells, resulting in dehydration of the airways surface layer and subsequent viscous tenacious mucus.
CF is a multi-system disease with a wide variability in the severity of symptoms and consequently the progression of the disease. Primarily it is the lungs and pancreas that are affected, with the small airways of the lungs and the pancreatic ducts being obstructed with the viscous tenacious mucus. This then often results in chronic lung disease and insufficient function of the exocrine pancreas. Despite the life expectancy increasing, where the median survival rates are now exceeding 30 years of age, CF remains an incurable illness with over 90 percent of the deaths attributed to lung failure and its associated complications.
The sweat test remains the gold standard diagnostic test for cystic fibrosis. It confirms the diagnosis and is 98% sensitive. Genetic testing is available for cystic fibrosis, but it does not detect all of the mutations that can cause the disease.
In this cross sectional observational study, we measured sweat chloride test levels among children with chronic pulmonary and or gastro-intestinal manifestations using Nanoduct neonatal sweat analysis system.
The present study included sixty one (61) patients with chronic pulmonary and or gastro intestinal manifestations who were referred to the Pediatric chest clinic, gastro-enterology clinics, children’s hospital, Ain Shams University,They were subdivided into two group: sweat CLpositive group It included thirty (30) patients and sweat CL negative group: It included thirty one (31) patients. The age of patients included in the study (n=61) ranged between 1 month -15 years with mean age of 5.69 4.84 years. Among them 35 (57.4%) were males and 26 (42.6%) were females.
All patients were subjected to:
Full medical history, thorough clinical examination with special emphasis on weight, height and chest examination, spirometric pulmonary function testing for children over 5 years, radiological evaluation included plain chest radiograph, posterior- anterior view, Chest computerized tomography (CT) scan and pelvi –abdominal ultra sonography and some laboratory investigations . These included complete blood picture with total and differential leucocytic count, erythrocyte sedimentation rate,C-reactive protein. And liver function tests.
Patients with positive sweat CL test ( CF confirmed patients) had earlier age of presentation, more positive family history, early onset of diagnosis, more pancreatic insufficiency, more severe pulmonary manifestations, more hepatobiliary manifestations and more complications than the sweat CL negative patients Wheeze was the only symptom with higher incidence among the sweat CL negative patients.
In CF confirmed patients; colonizing bacteria were pseudomonas aeurgenosa and MRSA, mean Brasfield score was 16±18 and more than 73% of the patients had a poor prognosis. On the other hand, the mean SK score was 57.98±18 and about 50% of the patients had moderate to severe score.
Cystic Fibrosis Genotyping Assay 32 Mutations were done for Thirty-two patients,the genetic study was negative in 14 (43.8%) and positive in 18 (56.2%) of whom 11(61.1%) were homozygous, 7 (38.9%) were heterozygous, DF508 mutation was detected in 8 (44.4%) patients(which is less than the ptimize population), 5 (62.5%) were homozygous, 3 (37.5%) were heterozygous, followed by C.2183 in 4 (22.2% which is much more than the other studies and may be specific to the Egyptian population with a severe clinical picture), then G542x in 2 (11.1%).while the other mutations were less than 5.5 %. A larger study thus needs to be carried out to identify a panel of common mutations among the Egyptian patients to allow a uniform molecular diagnosis in all clinically suspected cases.
Comparing the group of studied patients in the current study to CF patients in other studies; our patients had a more prevelant and severer symptoms, a more severe clinical and radiological scores when compared to CF patients in the developing and western countries.
This bad condition in our patient population was even worse in mutation positive patients.