Table 1.

Comparison of this case with other conditions associated with glomerular deposition of fibrillar collagens

ConditionGene Involved (inheritance)Function of GeneGlomerular ChangesElectron MicroscopyRenal Presentation
Nail-patella syndromeLMX1B (autosomal dominant)Transcription factor, expressed by podocytesNormal or focal mild basement membrane thickeningCollagen fibrils in lamina densa of glomerular basement membranePersistent proteinuria ± hematuria (nephrotic syndrome unusual); chronic renal failure in 30%
Collagen type III glomerulopathyUnknown (autosomal recessive)Unknown, but there is systemic stimulation of type III collagen synthesisBasement membrane thickening and mesangial matrix expansionMesangial and subendothelial collagen fibrilsPersistent proteinuria ± hematuria (nephrotic syndrome unusual); chronic renal failure, particularly in early-onset disease
Hereditary multiple exostosesEXT1/2(autosomal dominant)Glycosyltransferase required for heparan sulfate synthesisMild mesangial matrix expansion, focal mild basement membrane thickeningMesangial and subendothelial collagen fibrilsSteroid-sensitive nephrotic syndrome