PGI researchers find more manifestations of a rare genetic disorder - Hindustan Times
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PGI researchers find more manifestations of a rare genetic disorder

Hindustan Times, Chandigarh | By, Chandigarh
Sep 11, 2020 10:43 PM IST

DADA2 is a rare genetic disorder that involves inflammation of the body’s tissues, especially the tissues that make body vessels

A pioneering research carried by the rheumatologists at the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, in the field of systemic vasculitis has shown that a disease called DADA2 which was previously known to occur predominantly in children, also occurs in adults.

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DADA2 is a rare genetic disorder that involves inflammation of the body’s tissues, especially the tissues that make body vessels.

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This disease was recognised very recently in 2014 and is caused by a defect in the ADA2 gene which 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. The median age of involvement of all the 210 cases known till now was 4 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. This disease was known to present with brain strokes, bad extensive skin rashes, limb gangrene and also other internal organ involvement,” the researchers noted.

The researchers led by Professor Aman Sharma, rheumatology services, department of internal medicine, have reported manifestations not known to be associated with this disease till now like hemorrhage in the lungs, infarction of the pancreas, and heart involvement.

The research findings have been published online in ‘Arthritis and Rheumatology’ an official journal of the American College of Rheumatology.

Prof Aman Sharma said that it is important to recognise this entity since strokes do not recur if the treatment is started. Researchers called for spreading the awareness about a disease that can have various devastating manifestations including stroke in young and other significant major organ involvement, the recurrence of which can be prevented by prompt diagnosis and early appropriate therapy.

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