Benign Familial Hematuria

01/01/2008 - "Collagen IV heterozygous mutations were thought to cause only a mild form of renal disease (thin basement membrane nephropathy--TBMN). "
01/01/2023 - "Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy."
01/01/2018 - "About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). "
11/07/2014 - "Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. "
02/01/2014 - "Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. "

05/01/2001 - "To determine if the use of antibodies to collagen IV is helpful in making the distinction between thin basement membrane nephropathy and AS in female patients with primarily thin GBMs. "
05/01/2001 - "Approach to the diagnosis of thin basement membrane nephropathy in females with the use of antibodies to type IV collagen."

06/01/2023 - "In this study, we identified a novel mutation (c.3415G>A) in FN1 that causes glomerular fibronectin-specific deposition in a gain-of-function manner, that may be associated with thin basement membrane nephropathy (TBMN) and expand the spectrum of phenotypes seen in glomerulopathy with fibronectin deposits (GFND). "

02/01/2003 - "In the study group, the mean erythrocyte-to-buffer filtration time ratio, corrected for age of subjects, was significantly lower than in the control (P=0.042), IgA nephropathy (P=0.004), and benign familial hematuria groups (P= 0.048). "

01/01/1989 - "A monoclonal antibody, P1, possessing antiglomerular basement membrane specificity similar to that of naturally-occurring Goodpasture antibody, was used to study renal biopsy material from patients with thin-membrane nephropathy. "
01/01/1989 - "Reactivity of monoclonal antibody P1 with glomerular basement membrane in thin-membrane nephropathy."

06/01/2008 - "Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. "
09/01/1996 - "Benign familial hematuria due to mutation of the type IV collagen alpha4 gene."
02/01/2023 - "Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are part of the spectrum of kidney disorders caused by pathogenic variants in α3, α4, or α5 chains of the collagen type IV, the major structural component of the glomerular basement membrane (GBM). "
01/01/2022 - "Disease-causing variants in COL4A3-5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linked and a proposed digenic inheritance. "
05/21/2021 - "Simultaneous occurrence of anti-glomerular basement membrane (anti-GBM) disease and thin basement membrane nephropathy (TBMN), both of which invade the type IV collagen subunits, is very rare. "

01/01/2023 - "Eight patients with concurrent IgA nephropathy and thin basement membrane nephropathy (IgA-T) were retrospectively analyzed based on their clinicopathological characteristics. "
04/01/2013 - "The most common findings in renal biopsies were immunoglobulin A (IgA) nephropathy in 38.97 %, mesangial proliferative GN in 24.29 %, and thin basement membrane nephropathy in 13.13 %. "
09/01/2014 - "Thin basement membrane nephropathy (TBMN) was the most common pathology (55.3% of children and 49.6% of adults), followed by IgA nephropathy (18.4% of children and 32.5% of adults, mainly grade 2-3) and mesangial proliferative glomerulonephritis (MsPGN) without IgA deposition (13.2% of children and 12.8% of adults). "
01/01/2009 - "The frequencies of particular nephropathies in the groups with IMH and MHP were as follows: 35% and 55% for IgA nephritis, 24% and 31% for non-IgA mesangioproliferative glomerulonephritis (GN), 2% and 3% for focal proliferative GN, 3% and 3% for diffuse proliferative GN, 5% and 1% for thin basement membrane nephropathy, respectively. "
10/01/2007 - "Thin basement membrane nephropathy (TBMN) and IgA glomerulonephritis (IgA gn) are the most common primary glomerular conditions diagnosed on renal biopsy, performed for microscopic haematuria or microscopic haematuria with proteinuria. "

01/01/2018 - "Retinal temporal thinning is diagnostic for X-linked Alport syndrome in men and distinguishes them this condition from Thin basement membrane nephropathy, but only in men (p = 0.002). "
01/01/2018 - "The mean temporal retinal thickness index was 12.4 ± 5.2% in men (n = 19) and 7.4 ± 1.4% in women (n = 28) with X-linked Alport syndrome; 13.1 ± 4.5% (n = 4) in recessive disease; 6.4 ± 2.2% (n = 5) in Thin basement membrane nephropathy; and 6.3 ± 3.3% (n = 14) in other renal diseases. "
01/01/2018 - "Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy."
01/01/2023 - " individuals had renal cysts (5/15, 33%), with renal biopsy in one demonstrating a thinned glomerular basement membrane identical to that seen in Thin basement membrane nephropathy (AD Alport syndrome).In the eye, KCTD1 and its downstream targets, TFAP2, and the collagen IV α3 and α4 chains localised to the cornea and near the retinal amacrine cells. "

01/01/2022 - "Characterization of a P3h2ΔPod mouse line revealed that the absence of P3H2 protein in podocytes induced a thin basement membrane nephropathy (TBMN) phenotype with a thinner GBM than that in WT mice and the development of microhematuria and microalbuminuria over time. "
02/02/2016 - "Thin basement membrane nephropathy (TBMN) is often attributable to mutations in the COL4A3 or COL4A4 genes that encode the α3 and α4 chains of type IV collagen, respectively, a major structural protein in the glomerular basement membrane. "

09/01/2005 - "Urinary L-FABP levels were measured by enzyme-linked immunosorbent assay and compared, particularly between those diagnosed with IgA nephropathy and those diagnosed with thin basement membrane nephropathy. "
09/02/2017 - "Method: We compared blood levels of GdIgA1, GdIgA1-IgG in 33 children with IgAN, 38 children with other renal disease (including focal segmental glomerular nephritis, minimal change disease, Alport syndrome and thin basement membrane nephropathy) as disease controls, 35 healthy children as normal controls with enzyme-linked immunosorbent assay(ELISA). "

01/01/2018 - "Midterm Outcome of Kidney Transplantation From Donors With Thin Basement Membrane Nephropathy."
05/01/2005 - "The clinical implications of thin basement membrane nephropathy (TBMN) in renal transplantation must be considered from the perspectives of both the allograft recipient and the donor. "
05/01/2005 - "Thin basement membrane nephropathy and renal transplantation."

01/01/2009 - "In all patients (except patient with thin membrane nephropathy) we started immunossuppresive therapy with glucocorticoids in combination with cyclophosphamide or cyclosporin or azatioprine. "