title: Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
abstract: SIOD is a multisystem disorder caused by a mutant chromatin remodelling protein. The main clinical findings are spondyloepiphyseal dysplasia with disproportionate growth restriction, defective cellular immunity, and steroid-resistant nephrotic syndrome secondary to biopsy proven FSGS leading to ESRF. Concerning ESRF, kidney transplantation is the therapy of choice since FSGS does not recur in the graft. However, with respect to the underlying immune disorder and the increased susceptibility to life threatening infections, the question of the optimal immunosuppressive therapy after renal transplantation remains unresolved. Under conventional immunosuppressive regimens some SIOD patients have developed severe disseminated cutaneous papilloma virus infections or EBV associated lymphoproliferative disease. We present several cases of children with SIOD (four of five had SMARCAL1 mutations) and monotherapy maintenance immunosuppression after renal transplantation and compare them with 13 patients from the SIOD registry. We have found that post-renal transplantation immunosuppressive monotherapy results in a good outcome with a reduced number of severe infections. Due to the underlying immunodeficiency in SIOD, limited immunosuppression may be possible without increasing the risk of acute or chronic rejection.
authors.affiliation: Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany. luecke.thomas@mh-hannover.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: Nele
authors.initials: N
authors.lastname: Kanzelmeyer
authors.forename: Alireza
authors.initials: A
authors.lastname: Baradaran-Heravi
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.forename: Michael
authors.initials: M
authors.lastname: Burg
authors.forename: Jochen H H
authors.initials: JH
authors.lastname: Ehrich
authors.forename: Lars
authors.initials: L
authors.lastname: Pape
mesh_terms: D000293:Adolescent; D000328:Adult; D050197:Atherosclerosis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007154:Immune System Diseases / Q000150:complications; D007166:Immunosuppressive Agents / Q000008:administration & dosage*; D016030:Kidney Transplantation; D009404:Nephrotic Syndrome / Q000150:complications / Q000601:surgery*; D009508:Nevus, Pigmented / Q000150:complications; D010009:Osteochondrodysplasias / Q000150:complications; D013577:Syndrome; D055815:Young Adult
chemical_list: D007166:Immunosuppressive Agents