ASSOCIATION LUPUS AND TUBEROUS SCLEROSIS: IS IT POSSIBLE? THE INVOLVEMENT OF MTOR PATHEWAY
Journal Title: World Journal of Pharmaceutical and Medical Research - Year 2017, Vol 3, Issue 6
Abstract
Tuberous sclerosis is an autosomal dominant disorder characterized by involvement of skin, nervous system, kidneys, and lungs. It results from mutations in 1 of 2 genes: TSC1 (encoding hamartin) or TSC2 (encoding tuberin), leading to dysregulation and activation of the mammalian target of rapamycin (mTOR) pathway. Constitutive activation of mTOR signaling has recently been reported in systemic lupus erythematosus (SLE), and inhibition of this pathway may benefit patients with SLE nephritis. We report a case of a young woman with tuberous sclerosis and SLE, with dermatological, articular, hematological, and neurological tropism. Renal biopsy showed diffuse lupus nephritis, class IV, She was treated by pulse of Methylprednisolone and intravenous Cyclophosphamide as attack treatment relieved by azathioprine and oral corticosteroids. This is the second reported case of association between lupus and STB, it is of considerable interest because of the possibility that activation of mTOR by the TSC mutations may have led to activation of the immune system and the development of unusually severe SLE.
Authors and Affiliations
Dr. Rahima Mounir
Keywords
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