The clinical features of thin basement membrane nephropathy.
Thin basement membrane nephropathy (TBMN) is a common, lifelong condition affecting the kidneys that is characterized by microscopic glomerular hematuria, minimal or no proteinuria, and normal renal function. It often is discovered incidentally, and usually has an excellent prognosis. Many cases are familial and show autosomal-dominant inheritance. The defining characteristic is a glomerular basement membrane (GBM) that is thinned to about half its normal thickness on ultrastructural examination of the renal biopsy specimen. However, occasionally patients with TBMN develop marked proteinuria or renal impairment. It is unclear whether individuals with TBMN and impaired renal function represent part of the spectrum of TBMN associated with heterozygous COL4A3 or COL4A4 mutations, or if their disease is caused by mutations of other genes, or whether it is caused by a second coexistent renal lesion or is misdiagnosed Alport syndrome.
Gregory
Martin C
MC
Division of Nephrology, University of Utah Health Sciences Center, Salt Lake City, UT 84132-2412, USA. Gregory@hsc.utah.edu
D001324:Autoantigens / Q000235:genetics; D001485:Basement Membrane; D001706:Biopsy; D024141:Collagen Type IV / Q000235:genetics; D003937:Diagnosis, Differential; D005919:Glomerular Filtration Rate; D015433:Glomerulonephritis, Membranous / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation
D001324:Autoantigens; C466620:COL4A4 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain