الفهرس 
REVIEW OF LITERATUREOnly 14 pages are availabe for public view
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Abstract
C
ystic fibrosis (CF) is a genetic disease; most definitely serious, transmitted in the autosomal recessive mode, that affect gastrointestinal, pancreas, respiratory, reproductive, and endocrinal system.
Cystic fibrosis prevalence is more than 72,000 patients globally. The prevalence ranges from 1 in 2000–100,000 based on country. In the Middle East, the prevalence is estimated at 1 in 30,000–50,000, while the incidence is estimated at 1 in 2000–5800 live births. The median age of survival is 10–20 years in Arab countries compared to 40 years and more in developed countries.
This study aimed to register and record all the demographic,clinical characteristics, diagnostic tools, the most frequent mutations and the outcome of the Egyptian cystic fibrosis children attending our center, paving the way for having national survey and registery of children with cystic fibrosis waiting for very soon availability of their curative medications.
• Type of Study: Retrospective cross-sectional study.
• Study Setting: Ain shams university pediatric hospital, chest clinic and department.
• Study Period: 12 months.
• Study Population: CF patients attending chest clinic, pediatric hospital, Ain Shams University.
• Inclusion Criteria:
Patients with documented diagnosis of CF who were diagnosed according to CF Foundation guidelines based upon positive sweat tests and/or the presence of a mutation in the homozygous state or two heterozygous mutations on the gene encoding the CFTR protein (Cystic Fibrosis Foundation, 2019).
CF patients aged less than 18 years.
Out of the 96 cystic fibrosis patients studied, their characteristics were examined. On average, their age was 6.44 years, ranging from 0.50 to 17.70 years. Gender distribution was fairly even, with 52.1% males and 47.9% females. Most lived in rural areas (56.3%), while 43.8% were in urban areas. Socioeconomic status varied according to Gilan score: 75.0% were middle class, 13.5% were low-income, and 11.5% were high-income. A significant portion had a family history of cystic fibrosis (74.0%), suggesting a genetic link, and 36.5% reported consanguinity within their families.
The study found diverse initial complaints among participants during evaluation. The most common was ”Failure to thrive” in 30.22% of patients, followed by ”Steatorrhea” in 29.17%. ”Recurrent chest infections” affected 25% of patients, while ”Delayed passage of meconium” appeared in 7.3%. A smaller group reported electrolyte imbalances and dehydration symptoms, such as ”Hyponatremia, hypokalemia, dehydration” in 5.21% and ”Salty sweat” in 3.1%. These findings showcase the varied clinical presentations of cystic fibrosis, underscoring its multisystem nature.
The majority of patients (96.9%) in the study had cough, primarily a ”wet” type (90.3%). Expectorations were seen in 84.4%, indicating mucus production. Wheezes and crepitations were found in 81.3% and 79.2%, respectively, indicating respiratory issues. Dyspnea was reported by 66.7%, clubbing by 64.6%, and chest retractions by 37.5%. Respiratory distress varied, with 14.6% in severe distress, and 14.6% had cyanosis. These findings highlight the complex and multisystem nature of cystic fibrosis, with respiratory symptoms being prominent.
The study highlighted the gastrointestinal aspects of CF, with prevalent issues like steatorrhea and abdominal discomfort. Many patients experienced weight gain difficulties, and liver problems were observed in 25% of cases. The findings emphasize the need for comprehensive management to improve the well-being of CF patients due to its multifaceted nature.
The study found that the average sweat chloride test result of 94.97 meq/L confirms the presence of cystic fibrosis in this group. Genetically, there’s a diverse range of mutations, with F508del being the most common at 30.2%. Most patients (77.4%) have homozygous mutations, reflecting the typical inheritance pattern. The prevalence of Class II mutations (60.4%) highlights the genetic complexity, emphasizing the need for personalized treatments based on specific mutations and symptoms. The high percentage of homozygous mutations suggests potential genetic counseling and screening within affected families.
The study findings show that the average hemoglobin A1c level of 5.95% falls within the normal range, indicating good glycemic control. Hemoglobin, hematocrit, and platelet levels are typical for their age group, suggesting no severe anemia or polycythemia, although some individuals have microcytic hypochromic anemia (11.5%), indicating iron deficiency in a subgroup. Liver function, coagulation parameters, electrolyte balance, thyroid function, and fecal elastase levels are all within standard reference ranges. The mean growth hormone level of 7.27 ng/ml aligns with expected values for their age group, indicating normal growth hormone secretion. Overall, except for cases of microcytic hypochromic anemia, these cystic fibrosis patients display relatively stable hematological, liver, nutritional, coagulation, and endocrine profiles, providing a comprehensive understanding of their health status.
In the current study, diverse culture samples were collected, primarily from expectorated sputum (67.7%), induced sputum (27.1%), and throat samples (5.2%). Sputum cultures showed a range of microorganisms, including normal flora in 45.9% of samples, indicating non-pathogenic growth in many patients. Pseudomonas aeruginosa, a relevant cystic fibrosis pathogen, was present in 35.4% of cultures. MRSA, Staph-aureus, Klebsiella, Candida albicans, Burkholderiacepacia, and Streptococcus pyogenes were also identified, highlighting the polymicrobial nature of cystic fibrosis respiratory infections. These findings stress the importance of monitoring and managing microbial flora in CF patients, impacting their respiratory health and clinical outcomes.
The study revealed that 56.25% of cases had consolidation, primarily in the lower lobe (50.0%) and more frequently in the left lung (53.7%). Bronchiectasis was present in 45.8%, mostly in the lower lobe (65.9%). Atelectasis occurred in 8.3%, mainly in the right lung (62.5%). These findings emphasize the significant structural lung issues in cystic fibrosis patients, underlining the need for ongoing monitoring and personalized management.
The study found various liver and gallbladder abnormalities in cystic fibrosis patients. Most had normal liver (79.2%) and spleen (97.9%) findings. Hepatomegaly (enlarged liver) was in 13.5%, with 5.2% showing potential fatty liver changes, 2.1% having cirrhotic liver, and 2.1% with ascites. Gallbladder issues were observed in a minority (2.1% had calculi, 1.1% lacked a gallbladder, and 1.1% had gallbladder content abnormalities). These findings highlight the need for comprehensive abdominal health monitoring alongside respiratory care in cystic fibrosis patients.
Cardiac evaluations mostly showed normal heart sizes (98.9%). However, 1.1% had slightly enlarged hearts, possibly indicating cardiac adaptations or conditions. Pulmonary hypertension affected 7.3% of patients, with a mean pulmonary pressure of 27.77 mmHg. These findings stress the importance of monitoring cardiovascular health in cystic fibrosis patients due to potential implications for their well-being and management. Detecting and managing cardiac issues early is vital in their comprehensive care.
The study revealed that a significant portion of patients were using mucolytics (93.8%), hypertonic saline (96.9%), oral antibiotics (96.7%), and inhaled antibiotics (92.7%) to manage cystic fibrosis-related issues. Physiotherapy was provided to 82.1% of patients. Fewer patients used bronchodilators (14.6%). Multivitamins (97.9%) and pancreatic enzyme replacement therapy (93.8%) were common, addressing nutritional and digestive challenges. Proton pump inhibitors (PPIs) were prescribed to 90.6% for gastrointestinal symptoms. These treatment patterns emphasize the need for personalized care in cystic fibrosis, given its multifaceted medical requirements.