Unanswered questions about microscopic haematuria with tubulopathy

Key Points

• This commentary addresses the gaps in understanding the genetic causes of microscopic haematuria in patients presenting with tubulopathy.
• Review of findings by Riella and colleagues regarding pathogenic variants.
• Analysis of the frequency of COL4A3, COL4A4, and COL4A5 variants in a US cohort.
• Discussion of clinical implications for individuals with thin glomerular basement membrane disease.
• Only one-third of the cohort exhibited pathogenic heterozygous variants of COL4A3, COL4A4, or COL4A5.
• Identifying these variants raises questions regarding the remaining two-thirds without known genetic causes.
• Implications for further research into other genetic factors influencing microscopic haematuria and tubulopathy.