Amid challenging times due to the Covid - 19 pandemic, rheumatologists in PGI hospital here have discovered that a disease known as DADA2 that was previously known to occur predominantly among children also occurs in adults, its Director Jagat Ram said on Friday.
The disease was recognised only in 2014 and is caused by a defect in the ADA2 gene that results in a deficiency of the ADA2 enzyme.
What was known till now was that this disease manifests in the form of vasculitis, immunodeficiency and bone marrow failure, he said.
The median age of involvement of all 210 cases known till now was four years, whereas the present study has had a median age of 15 years with patients presenting even as late as in the fourth decade of life, a Postgraduate Institute of Medical Education and Research (PGIMER) statement said.
This disease was known to be present with brain strokes, extensive bad skin rashes, limb gangrene and also other internal organs involvement.
The researchers led by Aman Sharma of the Department of Internal Medicine reported manifestations not known to be associated with this disease till now like haemorrhage in lungs, infarction of pancreas, a kind of brain (PRES) and heart involvement (focal myocarditis).
Sharma said it is important to recognise this entity since strokes do not recur if the treatment is started.
What Sharma's group showed for the first time was the good treatment outcomes of other disease manifestations which had not been reported previously.
Their group is also the first to report that similar biological drugs which cost much less than the innovator drugs are also effective.
This would help reduce the cost of treatment significantly.
As many of these similar biological drugs are made in India, this would muster support for the use of these drugs in this disease.
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