Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10007
Title: Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.
Authors: Rana, Kesha;Wang, Yan Yan;Powell, Harley;Jones, Colin;McCredie, David;Buzza, Mark;Udawela, Madhara;Savige, Judy A
Affiliation: University of Melbourne, Department of Medicine, Austin Health/Northern Health, Melbourne, Australia.
Issue Date: 19-Oct-2005
Citation: Pediatric Nephrology (berlin, Germany) 2005; 20(12): 1729-37
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.
Internal ID Number: 16235097
URI: http://ahro.austin.org.au/austinjspui/handle/1/10007
DOI: 10.1007/s00467-005-2034-2
URL: http://www.ncbi.nlm.nih.gov/pubmed/16235097
Type: Journal Article
Subjects: Adolescent
Autoantigens.genetics
Basement Membrane.pathology
Biopsy
Child
Child, Preschool
Chromosomes, Human, X
Collagen Type IV.genetics
Erythrocyte Count
Erythrocyte Indices
Female
Genetic Linkage
Haplotypes
Hematuria.blood.genetics.urine
Humans
Kidney.pathology.surgery
Kidney Glomerulus.pathology
Male
Nephritis, Hereditary.genetics.pathology
Pedigree
Appears in Collections:Journal articles

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