TY - JOUR
T1 - Tuberous sclerosis and fulminant lupus in a young woman
AU - Singh, Namrata
AU - Birkenbach, Mark
AU - Caza, Tiffany
AU - Perl, Andras
AU - Cohen, Philip L.
PY - 2013/4
Y1 - 2013/4
N2 - 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 who developed fulminant SLE, with lower extremity edema, massive proteinuria, and class IV lupus glomerulonephritis. She died despite treatment with high-dose steroids, plasmapheresis, and cyclophosphamide. Although there are no prior reports of coexistence of these 2 rare diseases, this case 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.
AB - 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 who developed fulminant SLE, with lower extremity edema, massive proteinuria, and class IV lupus glomerulonephritis. She died despite treatment with high-dose steroids, plasmapheresis, and cyclophosphamide. Although there are no prior reports of coexistence of these 2 rare diseases, this case 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.
KW - MTOR
KW - Rapamycin
KW - Systemic lupus erythematosus
KW - Tuberous sclerosis
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U2 - 10.1097/RHU.0b013e318289c033
DO - 10.1097/RHU.0b013e318289c033
M3 - Article
C2 - 23519178
AN - SCOPUS:84876178154
SN - 1076-1608
VL - 19
SP - 134
EP - 137
JO - Journal of Clinical Rheumatology
JF - Journal of Clinical Rheumatology
IS - 3
ER -