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Hematuria and risk for end-stage kidney disease.
Vivante A, Calderon-Margalit R, Skorecki K. Vivante A, et al. Curr Opin Nephrol Hypertens. 2013 May;22(3):325-30. doi: 10.1097/MNH.0b013e32835f7241. Curr Opin Nephrol Hypertens. 2013. PMID: 23449218 Review.
SUMMARY: Persistent isolated microscopic hematuria confers a risk for future chronic kidney disease, which is dependent on disease context, underlying genetics, environment interactions, and treatment. 'Benign (familial) hematuria' is a misnomer, which we rec …
SUMMARY: Persistent isolated microscopic hematuria confers a risk for future chronic kidney disease, which is dependent on disease context, …
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Deltas C, et al. Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. Genes (Basel). 2023. PMID: 37761826 Free PMC article. Review.
People who inherit heterozygous COL4A3/A4 variants are at-risk of a slowly progressive form of the disease, starting with microscopic hematuria in early childhood, developing Alport spectrum nephropathy. Sometimes, they are diagnosed with benign familial hematuri …
People who inherit heterozygous COL4A3/A4 variants are at-risk of a slowly progressive form of the disease, starting with microscopic hematu …
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Puapatanakul P, Miner JH. Puapatanakul P, et al. Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13. Curr Opin Nephrol Hypertens. 2024. PMID: 38477333 Free PMC article. Review.
RECENT FINDINGS: Several research studies have focused on the genotype-phenotype correlation under the latest classification scheme of AS. The historic diagnoses of "benign familial hematuria" and "thin basement membrane nephropathy" linked to heterozygous va …
RECENT FINDINGS: Several research studies have focused on the genotype-phenotype correlation under the latest classification scheme of AS. T …
Establishing the diagnosis of benign familial hematuria. The importance of examining the urine sediment of family members.
Blumenthal SS, Fritsche C, Lemann J Jr. Blumenthal SS, et al. JAMA. 1988 Apr 15;259(15):2263-6. JAMA. 1988. PMID: 3352118
During follow-up for up to 18 years, renal function remained normal, thus confirming the diagnosis of benign familial hematuria. Immunoglobulin A nephropathy and Alport's syndrome were less common than benign familial hematuria and could …
During follow-up for up to 18 years, renal function remained normal, thus confirming the diagnosis of benign familial hemat …
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.
Lenarduzzi S, Morgan A, Faletra F, Cappellani S, Morgutti M, Mezzavilla M, Peruzzi A, Ghiselli S, Ambrosetti U, Graziano C, Seri M, Gasparini P, Girotto G. Lenarduzzi S, et al. Hear Res. 2019 Sep 15;381:107769. doi: 10.1016/j.heares.2019.07.006. Epub 2019 Jul 13. Hear Res. 2019. PMID: 31387071
As regards to Alport syndrome, we were able to potentially reclassify a pathogenic allele in the COL4A3 gene, previously associated only with benign familial hematuria. In all the other cases, the genomic analysis allowed us to confirm the role of known causa …
As regards to Alport syndrome, we were able to potentially reclassify a pathogenic allele in the COL4A3 gene, previously associated only wit …
Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy.
Kajimoto Y, Endo Y, Terasaki M, Kunugi S, Igarashi T, Mii A, Terasaki Y, Shimizu A. Kajimoto Y, et al. Clin Exp Nephrol. 2019 May;23(5):638-649. doi: 10.1007/s10157-018-01687-1. Epub 2019 Jan 28. Clin Exp Nephrol. 2019. PMID: 30687875
BACKGROUND: Thin basement membrane nephropathy (TBMN) is diagnosed by diffuse thinning of the glomerular basement membrane (GBM) without any clinical and pathologic findings of Alport syndrome and the other renal diseases. TBMN is characterized clinically by benign fami …
BACKGROUND: Thin basement membrane nephropathy (TBMN) is diagnosed by diffuse thinning of the glomerular basement membrane (GBM) without any …
Evidence for genetic heterogeneity in benign familial hematuria.
Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Piccini M, et al. Am J Nephrol. 1999;19(4):464-7. doi: 10.1159/000013499. Am J Nephrol. 1999. PMID: 10460935
Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of all hematuria of unknown cause in children. ...
Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of all hematuria o …
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Slajpah M, et al. Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28. Kidney Int. 2007. PMID: 17396119 Free article.
Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. ...
Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. ...
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K, Nozu K. Horinouchi T, et al. Kidney360. 2020 Jul 16;1(9):936-942. doi: 10.34067/KID.0000372019. eCollection 2020 Sep 24. Kidney360. 2020. PMID: 35369551 Free PMC article.
Recently, the magnitude of the clinical spectrum of the COL4A3 and COL4A4 heterozygous state has attracted attention. This spectrum includes asymptomatic carriers of ARAS, benign familial hematuria, thin basement membrane disease, and autosomal dominant Alpor …
Recently, the magnitude of the clinical spectrum of the COL4A3 and COL4A4 heterozygous state has attracted attention. This spectrum includes …
22 results