Benign Familial Hematuria

Yoshikawa, Norishige; Matsuyama, S; Iijima, Kazumoto; Maehara, K.; Okada, Satoshi; Matsuo, Tamotsu

doi:10.1016/s0022-5347(17)40941-4

Cited by 10 publications

(12 citation statements)

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“…Conversely, nephrotic-range proteinuria is rare even in older patients. Renal function in children with TBMN is normal (43,49,60), whereas adults have been reported to have low prevalence of renal insufficiency (16,17,26,27,46,47,61). The incidence of renal insufficiency in these patients might partially reflect the complicated differential diagnosis from autosomal or X-linked Alport syndrome or concurrent additional renal disease.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Hematuria has been diagnosed at all ages (8,11,43), and several studies have indicated that the disease is somewhat more common in female than in male individuals, among both children and adults (8,17,18,27,(42)(43)(44)(45)(46)(47), but other studies have not revealed such findings (26,48 -50). Exact prevalence of the disease is difficult to assess, as the diagnosis is made mostly on the basis of persistent hematuria combined with minimal proteinuria, whereas the number of electron microscopic analyses of renal biopsies showing thinned basement membrane have become less common (51).…”

Section: Epidemiologymentioning

confidence: 99%

“…The characteristic clinical manifestation of TBMN is persistent microscopic hematuria (1)(2)(3)8,11,16,17,26,27,43,44,46,57). Most patients with TBMN present only with hematuria, without additional symptoms or progression to renal impairment, and the condition is usually incidentally detected during health control.…”

Section: Clinical Featuresmentioning

confidence: 99%

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Thin Basement Membrane Nephropathy

Tryggvason¹,

Patrakka²

2006

Journal of the American Society of Nephrology

108

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Section: Clinical Featuresmentioning

confidence: 99%

Section: Epidemiologymentioning

confidence: 99%

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Thin Basement Membrane Nephropathy

Tryggvason¹,

Patrakka²

2006

Journal of the American Society of Nephrology

108

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“…Therefore, the diagnosis of BFH requires observation of individuals over a long period [2]. By electron microscopy analysis, a diffuse thinning of the glomerular basement membrane (GBM) may be present in BFH [3], although this is considered a nonspecific finding [4]. The thinner GBM may be the initial microscopic alteration in AS, which starts in childhood with hematuria and leads to end-stage renal failure between the second and the fourth decades of life.…”

Section: Introductionmentioning

confidence: 99%

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

et al. 1999

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Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of all hematuria of unknown cause in children. Previous observations suggest that BFH may be allelic to recessive Alport syndrome (AS: MIM 203780) with a mutation in the COL4A3/COL4A4 locus. However, it is not clear whether all cases of BFH are due to heterozygous mutation of COL4A3/COL4A4 genes. We report here the exclusion of linkage between BFH and COL4A3/COL4A4 loci at 2q35-37 in a restricted population from Sicily (Italy). Total lod score is –9.6 at theta 0. Furthermore, in some cases exclusion of linkage is evident even considering single families. We conclude that BFH is genetically heterogeneous.

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“…The presence of isolated vascular C3 with mild or no other pathological abnormality has been noted in association with hematuria in several reports [1][2][3]. In a classic study of hematuria, Trachtman et al [1] reviewed 76 renal biopsies from children with hematuria and reported vascular C3 deposits as one of the four most-frequent findings, accounting for 9% of all biopsies and 16% of abnormal biopsies.…”

Section: Introductionmentioning

confidence: 99%

Vascular C3 deposits on renal biopsy in pediatric patients with hematuria

Sheth

Hawkins

Brewer

2000

Pediatric Nephrology

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Isolated deposition of the third component of complement (C3) in the renal arterioles has been noted on biopsy specimens in patients with hematuria. This entity is of little known significance and reports of this finding in pediatric patients with hematuria are rare. We reviewed the clinical histories and biopsies of 17 children with hematuria and vascular C3 deposition on biopsy at Texas Children's Hospital over an 14-year period. The mean age of presentation was 10.8 (range 4.5-16.6) years with a male preponderance (71%). Family history for hematuria was positive in 6 of 17 patients (35%). Light microscopy was normal or showed only minor abnormalities. Immunofluorescence was negative for IgA and IgG in all patients. Seven patients (41.1%) were noted to have diffuse or focally thin basement membranes on electron microscopy in addition to positive C3 immunofluorescence. The mean follow-up time was 23.8 months, during which 2 of 17 patients (12%) developed worsening proteinuria. The etiopathogenesis of this condition remains unclear, but an underlying immunological process cannot be ruled out. It is possible that this condition represents a stage of an acute glomerulonephritis. Clinical follow-up of these patients is warranted, as the long-term prognosis remains unclear.

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Benign Familial Hematuria

Cited by 10 publications

References 0 publications

Thin Basement Membrane Nephropathy

Thin Basement Membrane Nephropathy

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

Vascular C3 deposits on renal biopsy in pediatric patients with hematuria

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