BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is still regarded as a serious disease although treatment with cyclosporine (CSA) has improved outcome. However, the duration of treatment in responders is unclear, and treatment of patients with genetic causes is a matter of debate. METHODS: Thirty-six patients with SRNS were studied retrospectively. Median age at presentation was 3.2 (range, 0.06-15.0) and median follow-up 15.5 years (range, 1.8-27.7), respectively; 23 (64%) had focal segmental glomerulosclerosis (FSGS) on biopsy. In 33/36 patients (92%), genetic testing was performed for at least three most common genes known to be mutated in SRNS. RESULTS: Nineteen patients (53%), especially those with minimal change nephrotic syndrome (MCNS) at initial biopsy (p < 0.002), entered complete remission with CSA monotherapy, including one patient with compound heterozygous NPHS1 and dominant ACTN4 mutation, respectively. Ten patients entered partial remission (28%, all FSGS), including two with NPHS2 mutations. Seven patients (six FSGS, one MCNS) did not respond to treatment. In 15 of 19 responders to CSA, treatment was stopped after a median of 3.1 years (range, 0.5-14) and no further relapses occurred in 11/15 (73%) patients with median follow-up of 9.7 years. CONCLUSIONS: CSA monotherapy is effective in SRNS. Discontinuation of CSA is possible in many patients with complete remission.
BACKGROUND:Steroid-resistant nephrotic syndrome (SRNS) is still regarded as a serious disease although treatment with cyclosporine (CSA) has improved outcome. However, the duration of treatment in responders is unclear, and treatment of patients with genetic causes is a matter of debate. METHODS: Thirty-six patients with SRNS were studied retrospectively. Median age at presentation was 3.2 (range, 0.06-15.0) and median follow-up 15.5 years (range, 1.8-27.7), respectively; 23 (64%) had focal segmental glomerulosclerosis (FSGS) on biopsy. In 33/36 patients (92%), genetic testing was performed for at least three most common genes known to be mutated in SRNS. RESULTS: Nineteen patients (53%), especially those with minimal change nephrotic syndrome (MCNS) at initial biopsy (p < 0.002), entered complete remission with CSA monotherapy, including one patient with compound heterozygous NPHS1 and dominant ACTN4 mutation, respectively. Ten patients entered partial remission (28%, all FSGS), including two with NPHS2 mutations. Seven patients (six FSGS, one MCNS) did not respond to treatment. In 15 of 19 responders to CSA, treatment was stopped after a median of 3.1 years (range, 0.5-14) and no further relapses occurred in 11/15 (73%) patients with median follow-up of 9.7 years. CONCLUSIONS:CSA monotherapy is effective in SRNS. Discontinuation of CSA is possible in many patients with complete remission.
Authors: Carolin E Sadowski; Svjetlana Lovric; Shazia Ashraf; Werner L Pabst; Heon Yung Gee; Stefan Kohl; Susanne Engelmann; Virginia Vega-Warner; Humphrey Fang; Jan Halbritter; Michael J Somers; Weizhen Tan; Shirlee Shril; Inès Fessi; Richard P Lifton; Detlef Bockenhauer; Sherif El-Desoky; Jameela A Kari; Martin Zenker; Markus J Kemper; Dominik Mueller; Hanan M Fathy; Neveen A Soliman; Friedhelm Hildebrandt Journal: J Am Soc Nephrol Date: 2014-10-27 Impact factor: 10.121
Authors: Anja K Büscher; Bodo B Beck; Anette Melk; Julia Hoefele; Birgitta Kranz; Daniel Bamborschke; Sabrina Baig; Bärbel Lange-Sperandio; Theresa Jungraithmayr; Lutz T Weber; Markus J Kemper; Burkhard Tönshoff; Peter F Hoyer; Martin Konrad; Stefanie Weber Journal: Clin J Am Soc Nephrol Date: 2015-12-14 Impact factor: 8.237
Authors: Daniela A Braun; Carolin E Sadowski; Stefan Kohl; Svjetlana Lovric; Susanne A Astrinidis; Werner L Pabst; Heon Yung Gee; Shazia Ashraf; Jennifer A Lawson; Shirlee Shril; Merlin Airik; Weizhen Tan; David Schapiro; Jia Rao; Won-Il Choi; Tobias Hermle; Markus J Kemper; Martin Pohl; Fatih Ozaltin; Martin Konrad; Radovan Bogdanovic; Rainer Büscher; Udo Helmchen; Erkin Serdaroglu; Richard P Lifton; Wolfram Antonin; Friedhelm Hildebrandt Journal: Nat Genet Date: 2016-02-15 Impact factor: 38.330