LMX1B and nephrotic syndrome: Since the initial report by Dreyer et al that LMX1B mutations can cause NPS, research on this gene has expanded.[2,4–6] NPS involves nail and skeleton defects, with about 20% of patients developing nephrotic syndrome and 10% progressing to ESRD,[7] posing a major threat to quality of life.[8,9] In recent years, NPLRD without extrarenal manifestations caused by LMX1B gene mutation has aroused the interest of workers.[10–20] NPLRD caused by LMX1B mutations lacks extra-renal manifestations, it is often misdiagnosed due to nonspecific symptoms and renal pathology.