Acta Med. 2010, 53: 157-159

https://doi.org/10.14712/18059694.2016.76

Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Station

Sylva Skálováa, Miroslav Podholab, Karel Vondrákc, Gil Chernind

aDepartment of Paediatrics, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic
bFingerland's Department of Pathology, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic
cDepartment of Paediatrics, Charles University, 2nd Medical Faculty and Motol Faculty Hospital, Prague, Czech Republic
dDepartments of Paediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA

Received October 25, 2009
Accepted May 17, 2010

References

1. Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24:349–54. <https://doi.org/10.1038/74166>
2. Del Rio M, Kaskel F. Evaluation and management of steroid-unresponsive nephrotic syndrome. Curr Opin Pediatr 2008; 20:151–56. <https://doi.org/10.1097/MOP.0b013e3282f4e6e4>
3. Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 2007; 119:907–19. <https://doi.org/10.1542/peds.2006-2164>
4. Hinkes B, Vlangos C, Heeringa S, et al. APN Study Group. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008; 19:365–71. <https://doi.org/10.1681/ASN.2007040452> <PubMed>
5. Karle SM, Uetz B, Ronner V, Glaeser L, et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. Am Soc Nephrol 2002; 13:388–93.
6. Malina M, Cinek O, Janda J, Seeman T. Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. Pediatr Nephrol 2009 Jun 3. [Epub ahead of print].
7. Plank C, Kalb V, Hinkes B, Hildebrandt F, et al. Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol 2008; 23:1483–93. <https://doi.org/10.1007/s00467-008-0794-1> <PubMed>
8. Ruf RG, Lichtenberger A, Karle SM, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15:722–32. <https://doi.org/10.1097/01.ASN.0000113552.59155.72>
9. Vats AN. Genetics of idiopathic nephrotic syndrome. Ind J Pediatr 2005; 72:777–83. <https://doi.org/10.1007/BF02734151>
10. Vécsei AK, Müller T, Schratzberger EC, et al Plasmapheresis-induced remission in otherwise therapy-resistant FSGS. Pediatr Nephrol 2001; 16:898–900. <https://doi.org/10.1007/s004670100682>
11. Yokoyama H, Wada T, Furuichi K. Immunomodulation effects and clinical evidence of apheresis in renal diseases. Ther Apher Dial 2003; 7:513–519. <https://doi.org/10.1046/j.1526-0968.2003.00100.x>
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