The mutation of LIM homeodomain
transcription factor LMX1B gene leads to
nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy. The characteristic renal histological finding of NPS nephropathy is irregular thickening of the glomerular basement membrane with patchy lucent areas, including deposits of bundles of
type III collagen fibrils revealed by electron microscopy (EM).
Fabry disease is a lysosomal storage disorder caused by a deficiency of α-
galactosidase A activity, and the characteristic EM finding is a lamellated membrane structure (myelin figures). We present the case of a male with LMX1B-associated nephropathy (LAN) who showed
focal segmental glomerulosclerosis (FSGS) on light microscopy, and myelin figures and slight deposits of
collagen fibrils on EM, without findings of glomerular basement membrane abnormality suggestive for NPS. A 21-year-old Japanese-Brazilian man was admitted to hospital for an investigation of the cause of
proteinuria and decreased renal function. A renal biopsy was performed to investigate the cause of renal damage.
Fabry disease was initially considered, based on the presence of myelin figures on EM, but since he had normal α-
galactosidase A activity, this initial diagnosis was denied, and the patient was subsequently diagnosed with FSGS. At 22 years after that renal biopsy, the patient was incidentally diagnosed with LAN when NM_002316:3c.746G > A:p.(Arg249Gln) LMX1B variant was identified in his older brother by a pre-
transplantation examination, and the same mutation was confirmed in the patient. Myelin figures revealed by EM might become one of the clues for the diagnosis of LAN.