title: Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.
abstract: 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.
authors.affiliation: University of Melbourne, Department of Medicine, Austin Health/Northern Health, Melbourne, Australia.
authors.forename: Kesha
authors.initials: K
authors.lastname: Rana
authors.forename: Yan Yan
authors.initials: YY
authors.lastname: Wang
authors.forename: Harley
authors.initials: H
authors.lastname: Powell
authors.forename: Colin
authors.initials: C
authors.lastname: Jones
authors.forename: David
authors.initials: D
authors.lastname: McCredie
authors.forename: Mark
authors.initials: M
authors.lastname: Buzza
authors.forename: Madhara
authors.initials: M
authors.lastname: Udawela
authors.forename: Judy
authors.initials: J
authors.lastname: Savige
mesh_terms: D000293:Adolescent; D001324:Autoantigens / Q000235:genetics*; D001485:Basement Membrane / Q000473:pathology*; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D024141:Collagen Type IV / Q000235:genetics*; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006417:Hematuria / Q000097:blood / Q000235:genetics* / Q000652:urine; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000601:surgery; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain