Скачать или смотреть How is Cystic Fibrosis diagnosed? | Dr. Sushil Kabra, Consultant at AIIMS

Recurrent pneumonia and breathing problems are among the earliest indicators

There is increased sodium and potassium in sweat. A sweat test estimates the chloride content in the sweat and if it is more than 60 milliquilink along with clinical features, it is most likely to be cystic fibrosis

If a gene test is able to identify two defects in the blood sample, then the diagnosis is confirmed.

There are more than 2000 types of mutations or defects responsible for causing the disease. That's why it is very difficult to test.

In India, sweat chloride or increased chloride in the sweat with a clinical phenotype are considered to be a gold standard for making a diagnosis.

At AIIMS with a test called aquagenic wrinkling, children with cystic fibrosis develop wrinkling within 2-3 minutes as opposed to 10-15 minutes in normal children. Learn More: https://chetindia.org/cystic-fibrosis/



Learn more: https://chetindia.org/cystic-fibrosis/

#CysticFibrosis #DrSushilKabra #CFAwareness #RareDiseases #PediatricCare #LungHealth #GeneticTesting #CFManagement #AIIMS #SupportGroups #rarediseases #rarediseaseday #raredisease #rarediseaseresearch #rarediseaseawareness #geneticdisorders #geneticcounseling #geneticinheritance #dna #genetictesting #geneticmaterial #geneticfactors #supportgroups #supportgroup