Renal tract abnormalities detected in Australian preschool children

Hogg, Russell; Harris, Scott; Lawrence, D; Henning, Paul; Wigg, Neil R.; Jureidini, K. F.

doi:10.1046/j.1440-1754.1998.00269.x

Cited by 10 publications

(11 citation statements)

References 14 publications

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“…However, the prevalence may be estimated from known frequencies of persistent hematuria in the population and from the number of TBMN cases in archival series of renal biopsies, together with the knowledge of prevalence of autosomal Alport syndrome (51). Several studies have addressed the prevalence of hematuria and persistent hematuria in children and adults (52)(53)(54)(55)(56). Persistent hematuria is commonly defined as hematuria that is observed on at least two occasions, and in TBMN, a useful additional criterion could be that these two incidents occurred at least 2 yr apart (51).…”

Section: Epidemiologymentioning

confidence: 99%

Thin Basement Membrane Nephropathy

Tryggvason¹,

Patrakka²

2006

Journal of the American Society of Nephrology

108

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Section: Epidemiologymentioning

confidence: 99%

Thin Basement Membrane Nephropathy

Tryggvason¹,

Patrakka²

2006

Journal of the American Society of Nephrology

108

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“…Glomerular hematuria that persists for at least a year occurs in at least 1% of the population [1][2][3] and is typically due to thin basement membrane nephropathy (TBMN). Much less often, it results from Alport syndrome.…”

mentioning

confidence: 99%

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

Savige

Gregory

Groß³

et al. 2013

Journal of the American Society of Nephrology

309

282

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Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without explicit critical appraisal, or based on physiology, bench research, or first principles-National Health Service category) or Level III (Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees-U.S. Preventive Services Task Force) evidence. The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance; the need to identify and follow all affected members of a family with X-linked Alport syndrome, including most mothers of affected males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade, possibly even before the onset of proteinuria; discouraging the affected mothers of males with X-linked Alport syndrome from renal donation because of their own risk of kidney failure; and consideration of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further.

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“…The median number of members studied in each family was 8 (range [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19].…”

Section: Patientsmentioning

confidence: 99%

“…It usually originates from the glomerulus [4,5] and is often caused by the inherited disease known as 'benign familial hematuria' or 'thin basement membrane nephropathy' (TBMN) [6,7,8,9,10,11]. Sometimes persistent hematuria is due to Xlinked Alport syndrome.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2005

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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.

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Renal tract abnormalities detected in Australian preschool children

Abstract: Undiagnosed renal tract abnormalities are present in many Australian preschool children. Most are detectable by a thorough history, examination and urinalysis.

Cited by 10 publications

References 14 publications

Thin Basement Membrane Nephropathy

Thin Basement Membrane Nephropathy

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

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

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