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Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation

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Abstract

Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m2 per day) without any negative effects on renal function (stable glomerular filtration rate 130–150 ml/min per 1.73 m2). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate. However, its long-term effect and safety in children with hereditary forms of nephrotic syndrome have yet to be investigated.

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Acknowledgments

We would like to thank to Dr. M. Konečná from the Pediatric Department of Třinec hospital for the initial diagnosis and long-term follow-up of the patient and Dr. T. Šuláková from Faculty of Health Studies, Teaching Hospital Ostrava for performing renal biopsy. This study was supported by grants of the Ministry of Health and Education of the Czech Republic VZ MZ ČR Nr. 0006420301 and MŠMT ČR Nr. 0021620819.

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  1. Department of Pediatrics, Second Faculty of Medicine, Charles University–Prague, V Uvalu 84, Prague 5, 150 06, Czech Republic

    Michal Malina, Ondrej Cinek, Jan Janda & Tomas Seeman

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  1. Michal Malina
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  2. Ondrej Cinek
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  3. Jan Janda
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Correspondence to Michal Malina.

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Malina, M., Cinek, O., Janda, J. et al. Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. Pediatr Nephrol 24, 2051–2053 (2009). https://doi.org/10.1007/s00467-009-1211-0

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  • DOI: https://doi.org/10.1007/s00467-009-1211-0

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