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PGI Chandigarh doctors discover DADA2 occurrence in adults too
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).
Chandigarh- 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. This also has a global connotation as cost is a major hindrance to treatment for most of the developing world.
This paper has come online in 'Arthritis and Rheumatology', an official journal of the American College of Rheumatology.
Savita Kumari, Head of the Department of Internal Medicine, said the rheumatology unit has been at the forefront of vasculitis research in the world, and is also a much preferred treatment centre which is even recommended for vasculitis treatment by the vasculitis foundation of the US.
--IANS
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Medical Dialogues Bureau consists of a team of passionate medical/scientific writers, led by doctors and healthcare researchers. Our team efforts to bring you updated and timely news about the important happenings of the medical and healthcare sector. Our editorial team can be reached at editorial@medicaldialogues.in.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751