Tuberous Sclerosis Complex: One Woman's Search for Renal-Preserving Therapy.

Nephrology nursing journal : journal of the American Nephrology Nurses' Association

PubMedID: 26591274

Coombs EJ. Tuberous Sclerosis Complex: One Woman's Search for Renal-Preserving Therapy. Nephrol Nurs J. 2015;42(5):501-4.
Everolimus was very effective in the treatment of Anne, a patient with TSC and renal angiomyolipomas. Anne's renal tumors continue to shrink in size, with a decrease of more than 50% achieved to date, and her GFR remains in the normal range. She no longer experiences chronic back pain due to kidney tumors and is not taking pain medications. She is active and able to exercise daily, and her blood pressure remains within normal limits. Usually diagnosed in childhood, TSC requires life-long management. Patients can have many manifestations of the disease, and nurses need to be made aware of them because they often play a critical role in educating patients and their families (Agricola et al. , 2013). Currently, there is a great need for education and awareness in the medical field regarding TSC. The disease is often overlooked, misdiagnosed, or mismanaged. Patients can be given misleading information, which may lead to unnecessary procedures and distress. Moreover, with the correct management, patients with TSC have a normal life expectancy and preserved renal function.