About Thin Basement Membrane Nephropathy
Thin basement membrane nephropathy is characterised by persistent glomerular haematuria due to abnormal thinning of the glomerular basement membrane, most commonly caused by heterozygous mutations in COL4A3 or COL4A4, the same genes implicated in Alport syndrome. Previously considered uniformly benign, it is now recognised that a subset of patients, particularly those with additional genetic risk factors, develop significant proteinuria and progressive renal failure. The condition overlaps genetically and clinically with autosomal recessive Alport syndrome, and careful monitoring is essential.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Thin Basement Membrane Nephropathy trials.
Genetic testing for COL4A3/COL4A4 mutations is increasingly required to distinguish TBMN from Alport syndrome and to stratify disease progression risk; pursue full gene sequencing.
Annual monitoring of proteinuria, eGFR, and blood pressure is recommended and provides the longitudinal data needed for trial eligibility assessment regarding rate of progression.
Trials for COL4-related nephropathies may enrol both TBMN and Alport syndrome patients under a broader COL4A3/COL4A4 disease category; check for inclusive eligibility criteria.
Patient Resources
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