The clinical features of thin basement membrane nephropathy

• Published in: Seminars in nephrology Vol. 25; no. 3; p. 140
• Main Author: Gregory, Martin C
• Format: Journal Article
• Language: English
• Published: United States 01.05.2005
• Subjects: Autoantigens - genetics; Basement Membrane; Biopsy; Collagen Type IV - genetics; Diagnosis, Differential; Glomerular Filtration Rate; Glomerulonephritis, Membranous - diagnosis; Glomerulonephritis, Membranous - genetics; Heterozygote; Humans; Kidney Glomerulus - pathology; Kidney Glomerulus - physiopathology; Mutation
• ISSN: 0270-9295
• DOI: 10.1016/j.semnephrol.2005.01.004

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.