Synopsis
Recognise inherited type IV collagen disease, replace misleading benign labels with genetic risk assessment, and protect kidneys and families longitudinally.
- Alport syndrome results from pathogenic COL4A3, COL4A4 or COL4A5 variants affecting the glomerular basement membrane, cochlea and eye.
- X-linked COL4A5 disease is common, but autosomal recessive and dominant collagen IV disease create wide variability within and between families.
- Persistent glomerular haematuria from childhood, family kidney failure, sensorineural deafness or characteristic ocular signs should prompt genetic evaluation.
Key red flags
Rising blood pressure, proteinuria or creatinine during pregnancy requires urgent differentiation of renal disease progression from pre-eclampsia.
Investigation priorities
Confirm glomerular haematuria and quantify the prognostically important protein component.
Management branches
Persistent haematuria occurs with family, auditory or ocular clues.
- Exclude transient infection and obvious urological bleeding while confirming renal haematuria and quantitative albuminuria.
- Construct a pedigree covering kidney failure, haematuria, hearing loss, eye findings and potential inheritance through maternal and paternal lines.
Key medicines
ACE inhibitor or angiotensin-receptor blockerUse one locally preferred agent and titrate to albuminuria, blood pressure and tolerance under the renal plan; avoid combining the two classes.