title: Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex.
abstract: Herein we have reported the use of rapamycin in immunosuppressive treatment after renal transplantation as a therapy of choice in a patient with diagnosis of tuberous sclerosis complex (TSC). TSC is a genetic disorder, caused by mutations of TSC1 or TSC2 genes. Products of these genes, hamartin and tuberin, create a complex that inhibits mammalian target of rapamycin (mTOR), a key protein engaged in regulation of the cell cycle. Mutations of TSC genes lead to constitutive activation of mTOR resulting in uncontrolled proliferation, differentiation, and migration of cells. As a consequence malformations of many organs arise. We have presented a case of a 47-year-old female TSC patient with multisystem involvement (skin, brain, lungs, and kidneys), who developed end-stage renal disease ESRD due to angiomyolipomas with subsequent bilateral nephrectomy. At the age of 44 years, she started hemodialysis treatments and 10 months later underwent kidney transplantation. Immunosuppressive treatment included the mTOR inhibitor rapamycin. Since the patient was discharged from hospital, she has remained in good clinical condition with stable graft function. Clinical evaluation after 2 years treatment with rapamycin revealed significant regression of skin lesions. Brain, chest, and abdominal cavity computed tomography images remained stable. No complications of immunosuppressive treatment or TSC were observed. Experimental and clinical studies have confirmed that rapamycin exerts beneficial effects in TSC, providing a new therapeutic option. Therefore an immunosuppressive regimen with rapamycin should be considered as the treatment of choice after kidney transplantation among patients with TSC seeking to avoid development or progression of disease complications.
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Medical University of Gdansk, Poland. ataras@amg.gda.pl
authors.forename: A
authors.initials: A
authors.lastname: Tarasewicz
authors.forename: A
authors.initials: A
authors.lastname: Debska-Slizień
authors.forename: J
authors.initials: J
authors.lastname: Konopa
authors.forename: Z
authors.initials: Z
authors.lastname: Zdrojewski
authors.forename: B
authors.initials: B
authors.lastname: Rutkowski
mesh_terms: D000328:Adult; D018322:Angiofibroma / Q000150:complications; D005153:Facial Neoplasms / Q000150:complications; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016030:Kidney Transplantation / Q000276:immunology*; D008775:Methylprednisolone / Q000627:therapeutic use; D009154:Mutation; D020123:Sirolimus / Q000627:therapeutic use*; D016559:Tacrolimus / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D007166:Immunosuppressive Agents; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D020123:Sirolimus; D016559:Tacrolimus; D008775:Methylprednisolone