Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression

摘要

Focal and segmental glomerulosclerosis (FSGS) is a histopathological pattern of injury. As such, it encompasses a wide variety of dissimilar entities with different pathophysiologic mechanisms. Although ultrastructural morphological characteristics can specifically diagnose certain diseases and genetic mutations can also be unravelled, this ideal situation is generally not available worldwide. In this respect, when proteinuria with or without nephrotic syndrome is encountered and FSGS is the histological lesion, patients start to be prescribed different regimes of immunosuppression, which should only be indicated in cases of primary FSGS, a rare entity that is elusive to response and can hardly be precisely diagnosed. We present a 35-year-old female patient with a life-long diagnosis of FSGS and a heavy burden of immunosuppressants, which had been unable to manage the persistent proteinuria that eventually led to end-stage kidney disease. She was referred to us to organize the kidney transplant. Plasmapheresis had been previously suggested to her to prevent the relapse of primary FSGS. A genetic test disclosed that the patient was heterozygous for LMX1B, and the diagnosis of nail-patella syndrome was made. In this entity, immunosuppression is not indicated, and there is no recurrence of the disease in the transplanted allograft.