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June 1, 2026Kidney International Reports0 citationsOpen Access

Unanswered questions about microscopic haematuria with tubulopathy

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GNGuy H. NeildDOD.Deren OygarABAhmet Behlül

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.

Abstract

We read with great interest that Riella and colleagues 1 found pathogenic heterozygous variants of COL4A3, COL4A4 or COL4A5 in only a third of their US cohort with clinical features of thin glomerular basement membrane glomerular disease.

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Cite This Study

Neild et al. (2026) studied this question.

synapsesocial.com/papers/6a1d234302fbce9130638d69https://doi.org/10.1016/j.ekir.2026.106637
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