Pediatric Nephrology

, Volume 20, Issue 12, pp 1729–1737 | Cite as

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy

  • Kesha Rana
  • Yan Yan Wang
  • Harley Powell
  • Colin Jones
  • David McCredie
  • Mark Buzza
  • Madhara Udawela
  • Judy SavigeEmail author
Original Article


This study examined how often children with persistent familial hematuria were from families where hematuria segregated with the known genetic locus for the condition known as benign familial hematuria or thin basement membrane nephropathy (TBMN) at COL4A3/COL4A4. Twenty-one unrelated children with persistent familial hematuria as well as their families were studied for segregation of hematuria with haplotypes at the COL4A3/COL4A4 locus for benign familial hematuria and at the COL4A5 locus for X-linked Alport syndrome. Eight families (38%) had hematuria that segregated with COL4A3/COL4A4, and four (19%) had hematuria that segregated with COL4A5. At most, eight of the other nine families could be explained by disease at the COL4A3/COL4A4 locus if de novo mutations, non-penetrant hematuria or coincidental hematuria in unaffected family members was present individually or in combination. This study confirms that persistent familial hematuria is not always linked to COL4A3/COL4A4 (or COL4A5) and suggests the possibility of a further genetic locus for benign familial hematuria. This study also highlights the risk of excluding X-linked Alport syndrome on the basis of the absence of a family history or of kidney failure.


Alport syndrome Glomerular basement membrane (GBM) Linkage analysis Type IV collagen Red blood cells (RBC) 


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Copyright information

© IPNA 2005

Authors and Affiliations

  • Kesha Rana
    • 1
  • Yan Yan Wang
    • 1
  • Harley Powell
    • 2
  • Colin Jones
    • 2
  • David McCredie
    • 2
  • Mark Buzza
    • 1
  • Madhara Udawela
    • 1
  • Judy Savige
    • 1
    Email author
  1. 1.University of MelbourneDepartment of Medicine, Austin Health/Northern HealthMelbourneAustralia
  2. 2.Department of NephrologyRoyal Children’s HospitalMelbourneAustralia

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