MAJOR EVENTS ANDEVOLUTION IN CYSTICFIBROSIS PATIENTS
Author: Alexandra Martin
Coordinator: Dr. Reka Borka Balas
University of Medicine and Pharmacy Târgu- Mureş
INTRODUCTION
•Cystic fibrosis (CF) or mucoviscidosis, is the mostcommon autosomal recessive disease amongcaucasians.
•Mutations in a gene on the long arm of chromosome7, responsible for encoding and regulating clortransmembrane conductance regulator (CFTR).
•Deficiency of CFTR leads to clinical manifestations.
•Respiratory tract secretions are dehydrated.
•The extremely viscous mucus causes airwayobstruction and secondarily infection.
•The mutation leads to chronic fat malabsorption andmalnutrition.
CF GENETIC ETIOLOGY, PRENATALCOUNSELING AND NEONATAL SCREENING
http://en.wikipedia.org/wiki/File:Autorecessive.svg
http://upload.wikimedia.org/wikipedia/commons/e/e1/Cystic_fibrosis_manifestations.png
OBJECTIVE
•Highlight the most important clinicalmanifestations of patients diagnosed with CF.
• Follow up of clinical evolution of CF patients.
MATERIAL AND METHOD
•Retrospective study between 2003 - 2013 on 22cases diagnosed with CF in Pediatric Clinic 1Târgu- Mureş.
•The data were analyzed with chi-square test.
MATERIAL AND METHODFOLLOWED PARAMETERS
•Personal and family history.
•Clinical assessment: signs and symptoms.
•Laboratory evaluation.
•Interval between the occurrence of clinicalmanifestations and diagnosis.
•Number of hospitalization days.
FAMILY HISTORY OF CFPATIENTS
PATIENTS AVERAGE AGE AT CFDIAGNOSIS
SWEAT TEST
SWEAT TEST RESULTS
CLINICAL FORMS OF CF
MAIN RESPIRATORY SIGNS ANDSYMPTOMS
REPEATED PNEUMONIA
MAIN DIGESTIVE SINGS ANDSYMPTOMS
PATIENTS AGE AT ONSET OFFIRST SYMPTOMS
AVERAGE DAYS OFHOSPITALIZATION
PATIENTS ADHERENCE TO CFFOLLOW-UP
CONCLUSIONS
•Prenatal counseling is essential for carrier couples of CFTRmutation, or parents with children diagnosed with CF.
•Neonatal screening for CF should be a part of the earlydiagnosis of the disease, in order to establish a treatment toprevent the complications.
•Identifying the evocative signs and symptoms of thedisease, ensures a proper and early diagnosis.
•The quality of life in patients with CF has improvedsignificantly due to early diagnosis and treatment.
•Frequent and prolonged hospitalizations, the cost of chronictreatment.
•Patients low adherence to regular monitoring and to thereevaluation of general condition.
•Complications and lack of etiologic therapy, causes still lowlife expectancy of these patients.
THANK YOU FOR YOURATTENTION!