Everolimus in immunosuppressive treatment after kidney transplantation in a patient with tuberous sclerosis: case report.

BACKGROUND

Tuberous sclerosis complex (TSC) is an inherited disorder caused by mutations of TSC1 or TSC2 genes, resulting in constitutive activation of the mammalian target of rapamycin (mTOR) and impairment of the cell cycle. As a consequence, hamartomatous tumors of multiple organs may develop, but generally skin, brain, kidneys, and lungs are involved. mTOR inhibitors (mTOR-I, rapamycin/everolimus) may correct underlying defects in TSC. Previous data prove benefits and safety of mTOR-I on a wide spectrum of disease manifestations and effectiveness of rapamycin in TSC patients after kidney transplantation (KT).

METHODS

We report the first case of a patient with TSC receiving everolimus initiated in immunosuppressive treatment at the time of KT. In April 2012, the 34-year-old female TSC patient, after bilateral nephrectomy due to polycystic kidneys and skin lesions related to TSC, was transplanted with a renal graft from a deceased donor (PRA, 0%; MM A/B/DR,1/2/0). Initial immunosuppressive treatment consisted of basiliximab, methylprednisolone, tacrolimus, and everolimus.

RESULTS

The early postoperative period was complicated by delayed graft function. Creatinine level at discharge was 1.39 mg/dL, with stable graft function in subsequent months. Nine months after KT, inflammatory infiltration of the nephrectomy site (performed in 2011) with persistent effusion was observed. After 2 months of unsuccessful conservative treatment, the patient was converted from everolimus to mycophenolate mofetil with healing of local state. During 11 months of everolimus treatment, no improvement of skin presentation of TSC was noticed.

CONCLUSIONS

mTOR-I appear to be a treatment of choice in transplanted patients with TSC, although some complications precluding continuous mTOR-I therapy allowing its potential benefits, may appear.