Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation
| Autor: | Thomas Neuhaus, Stefanie Weber, Michelle P. Winn, Karl P. Pfeiffer, Gil Chernin, Philipp Pagel, Lothar Bernd Zimmerhackl, Franz Schäfer, Therese Jungraithmayr, Paul C. Grimm, Ulf Schönermarck, Johannes Zschocke, Andreas Kowarsch, Katrin Hofer, Tanja Knueppel, Burkhard Toenshoff, Tomáš Seeman, Pierre Cochat, Sonja Fargue, Gerard Cortina |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Nephrology
Adult Male medicine.medical_specialty Heterozygote Adolescent Medizin Compound heterozygosity urologic and male genital diseases Gastroenterology Young Adult Focal segmental glomerulosclerosis Recurrence Clinical Research Internal medicine medicine Humans Genetic Testing Child Kidney transplantation Genetic Association Studies Genetic testing Retrospective Studies medicine.diagnostic_test business.industry Glomerulosclerosis Focal Segmental urogenital system Graft Survival Homozygote Intracellular Signaling Peptides and Proteins Glomerulosclerosis Infant Membrane Proteins Retrospective cohort study General Medicine medicine.disease Kidney Transplantation female genital diseases and pregnancy complications Surgery Transplantation Child Preschool Mutation Female business |
| Popis: | Steroid-resistant focal segmental glomerulosclerosis (FSGS) often recurs after renal transplantation. In this international survey, we sought to identify genotype-phenotype correlations of recurrent FSGS. We surveyed 83 patients with childhood-onset primary FSGS who received at least one renal allograft and analyzed 53 of these patients for NPHS2 mutations. The mean age at diagnosis was 6.7 years, and the mean age at first renal transplantation was 13 years. FSGS recurred in 30 patients (36%) after a median of 13 days (range, 1.5 to 152 days). Twenty-three patients received a second kidney transplant, and FSGS recurred in 11 (48%) after a median of 16 days (range, 2.7 to 66 days). None of the 11 patients with homozygous or compound heterozygous NPHS2 mutations developed recurrent FSGS compared with 45% of patients without mutations. These data suggest that genetic testing for pathogenic mutations may be important for prognosis and treatment of FSGS both before and after transplantation. |
| Databáze: | OpenAIRE |
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