The role of molecular genetics in diagnosing familial hematuria(s)

Constantinos Deltas, Alkis Pierides, Konstantinos Voskarides

Research output: Contribution to journalReview articlepeer-review

34 Citations (Scopus)


Familial microscopic hematuria (MH) of glomer-ular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and our ability to use molecular genetics for diagnosing such patients, enabling us to study their clinical characteristics over time. Three collagen IV genes, COL4A3, COL4A4, and COL4A5 explain the autosomal and X-linked forms of Alport syndrome (AS), and a subset of thin basement membrane nephropathy (TBMN). A number of X-linked AS patients follow a milder course reminiscent of that of patients with heterozygous COL4A3/COL4A4 mutations and TBMN, while at the same time a significant subset of patients with TBMN and familial MH progress to chronic kidney disease (CKD) or end-stage kidney disease (ESKD). A mutation in CFHR5, a member of the complement factor H family of genes that regulate complement activation, was recently shown to cause isolated C3 glomerulopathy, presenting with MH in childhood and demonstrating a significant risk for CKD/ ESKD after 40 years old. Through these results molecular genetics emerges as a powerful tool for a definite diagnosis when all the above conditions enter the differential diagnosis, while in many at-risk related family members, a molecular diagnosis may obviate the need for another renal biopsy.

Original languageEnglish
Pages (from-to)1221-1231
Number of pages11
JournalPediatric Nephrology
Issue number8
Publication statusPublished - Aug 2012
Externally publishedYes


  • Alport syndrome
  • C3 glomerulonephritis
  • CFHR5 nephropathy
  • Collagen IV
  • Complement
  • Familial hematuria
  • Microscopic hematuria
  • Thin Basement Membrane Nephropathy


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