Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & EMBASE  
     Home | Subscribe | Feedback  

CASE SERIES
[View FULLTEXT] [Download PDF
 
Year : 2015  |  Volume : 61  |  Issue : 2  |  Page : 120-122  

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation

MC Abdulla1, J Alungal1, PN Hawkins2, S Mohammed1 
1 Department of General Medicine, MES Medical College, Kerala, India
2 Department of Medicine, National Amyloidosis Centre, UCL Medical School, Royal Free Hospital, London, United Kingdom

Correspondence Address:
M C Abdulla
Department of General Medicine, MES Medical College, Kerala
India

Muckle - Wells syndrome (MWS) is a rare autosomal dominant disease that belongs to a group of hereditary periodic fever syndromes. It is part of the wider spectrum of the cryopyrin-associated periodic syndrome (CAPS) which has only rarely been described in non-Caucasian individuals. It is characterized by recurrent self-limiting episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis from childhood. Progressive sensorineural hearing loss and amyloidosis are two late complications. MWS is caused by gain of function mutations in the NLRP3 gene, which encodes cryopyrin, a protein involved in regulating the production of proinflammatory cytokines. We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene. These findings promote awareness of these hereditary periodic fever syndromes as a cause for recurrent fevers from childhood in the Indian population.


How to cite this article:
Abdulla M C, Alungal J, Hawkins P N, Mohammed S. Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.J Postgrad Med 2015;61:120-122


How to cite this URL:
Abdulla M C, Alungal J, Hawkins P N, Mohammed S. Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. J Postgrad Med [serial online] 2015 [cited 2022 May 24 ];61:120-122
Available from: https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2015;volume=61;issue=2;spage=120;epage=122;aulast=Abdulla;type=0


 
Tuesday, May 24, 2022
 Site Map | Home | Contact Us | Feedback | Copyright  and disclaimer