Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

Background: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS.

Case Presentation: A 24-year-old woman presented to our hospital with knee pain.

A case of idiopathic nodular glomerulosclerosis with fibrin caps.

We report a case of idiopathic nodular glomerulosclerosis (ING) mimicking diabetic Kimmelstiel-Wilson glomerulopathy. A 72-year-old man suffering from nephritic syndrome and renal dysfunction had no prior history of diabetes mellitus, but had impaired glucose tolerance and a history of hypertension and smoking. A kidney biopsy showed increased mesangial matrix with Kimmelstiel-Wilson-like nodules, glomerular basement membrane thickening and capillary microaneurysms.

Intramembranous microspherical structures in focal segmental glomerulosclerosis.

A 45-year-old male had proteinuria for 3 years. For persistent proteinuria over 2 g/day, he underwent renal biopsy. Light microscopy revealed focal segmental glomerulosclerosis together with diffuse capillary wall thickening.