Unanswered questions about microscopic haematuria with tubulopathy

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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.

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This commentary discusses pathogenic variants in microscopic haematuria cases with tubulopathy, highlighting gaps in knowledge.

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Neild et al. (2026) studied this question.

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