It should be differentiated from other diseases causing renal damage and skeletal lesions. The diagnosis of this disease is not difficult, as most of the cases are noted for difficulty in walking due to patellar agenesis, and the diagnosis can be made based on typical skeletal changes, and the presence of renal damage is mostly confirmed. Radiological examination showing the iliac angle has characteristic diagnostic significance. A few patients with ultrastructural changes of the glomerular basement membrane without skeletal, cutaneous, finger (toe) nail, and other typical manifestations of this syndrome have been reported, and these patients were considered to be the tonoplastic or single nephrotic variant of the syndrome. However, the electron micrographs published in these studies do not strongly support this view. The phenomenon of glomerular basement membrane moth-eating alone cannot be used to make a judgment on kidney biopsy specimens; the protofibers must be identified by phosphotungstic acid staining. The primary diagnosis of nail-patellar syndrome is based on family history, and the typical clinical manifestations are x-ray signs of the bones and proteinuria. A renal biopsy is performed if necessary. Clinically, it is mostly seen in adolescents, whose main manifestations of renal damage are proteinuria, microscopic hematuria edema and hypertension, and occasionally nephrotic syndrome, with a relatively benign course, and only 10% of patients enter renal failure at an advanced stage.