<i>LMX1B</i>-associated steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis (case report)

Pathogenic variants in the LMX1B gene cause nail-patella syndrome, characterized by dysplasia of the patella, nails and elbows, and renal damage with focal segmental glomerulosclerosis (FSGS) with specific ultrastructural lesions of the glomerular basal membrane (GBM). We present a clinical observation of a girl with LMX1B-associated steroid-resistant nephrotic syndrome without the extrarenal characteristic of nail-patella syndrome with specific ultrastructural changes of the GBM. The presented clinical observation emphasizes the necessity to exclude proteinuria in family members with a child with FSGS and to perform molecular genetic study in all children with FSGS before prescribing immunosuppressive therapy with inclusion of LMX1B gene even in case of isolated kidney pathology.