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Hematuria, benign familial, 1(BFH1)

MedGen UID:
1053162
•Concept ID:
CN376803
•
Disease or Syndrome
Synonyms: BFH1; THIN MEMBRANE NEPHROPATHY
 
Gene (location): COL4A4 (2q36.3)
 
Monarch Initiative: MONDO:0007709
OMIM®: 141200

Professional guidelines

PubMed

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Evaluation and management of hematuria.
Jimbo M
Prim Care 2010 Sep;37(3):461-72, vii. Epub 2010 Jun 20 doi: 10.1016/j.pop.2010.04.006. PMID: 20705193
Adenocarcinoma of the prostate in men younger than 40 years of age: diagnosis and treatment with emphasis on radical prostatectomy findings.
Ruska KM, Partin AW, Epstein JI, Kahane H
Urology 1999 Jun;53(6):1179-83. doi: 10.1016/s0090-4295(99)00020-5. PMID: 10367849

Recent clinical studies

Etiology

Men's Health: Benign Prostatic Hyperplasia.
Langan RC
FP Essent 2021 Apr;503:18-22. PMID: 33856179
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Familial hematuria: A review.
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L
J Am Soc Nephrol 2014 Dec;25(12):2740-51. Epub 2014 May 22 doi: 10.1681/ASN.2013080912. PMID: 24854265Free PMC Article
Evaluation and management of hematuria.
Jimbo M
Prim Care 2010 Sep;37(3):461-72, vii. Epub 2010 Jun 20 doi: 10.1016/j.pop.2010.04.006. PMID: 20705193

Diagnosis

Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H
J Am Soc Nephrol 2023 Jan 1;34(1):132-144. Epub 2022 Oct 5 doi: 10.1681/ASN.2021111447. PMID: 36130833Free PMC Article
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Familial hematuria: A review.
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C
J Am Soc Nephrol 2001 Jan;12(1):97-106. doi: 10.1681/ASN.V12197. PMID: 11134255

Therapy

Ureteroscopic evaluation and treatment of benign essential hematuria: a systematic review.
Tadros NN, Conlin MJ
Can J Urol 2021 Feb;28(1):10510-10515. PMID: 33625340
Pheochromocytoma in children and adolescents: a clinical spectrum.
Bissada NK, Safwat AS, Seyam RM, Al Sobhi S, Hanash KA, Jackson RJ, Sakati N, Bissada MA
J Pediatr Surg 2008 Mar;43(3):540-3. doi: 10.1016/j.jpedsurg.2007.10.038. PMID: 18358297
Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy.
Haas M
Arch Pathol Lab Med 2006 May;130(5):699-706. doi: 10.5858/2006-130-699-TGBMNI. PMID: 16683888
Managing benign prostatic hyperplasia.
Dull P, Reagan RW Jr, Bahnson RR
Am Fam Physician 2002 Jul 1;66(1):77-84. PMID: 12126034
Epidemic renal disease of unknown etiology in the Zuni Indians.
Hoy WE, Megill DM, Hughson MD
Am J Kidney Dis 1987 Jun;9(6):485-96. doi: 10.1016/s0272-6386(87)80075-6. PMID: 3591794

Prognosis

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.
Horaček M, Nikuševa Martić T, Šenjug P, Šenjug Perica M, Oroz M, Kuzmac S, Klarić D, Glavina Durdov M, Saraga M, Milošević D, Batinić D, Ćorić M, Paić F, Galešić Ljubanović D
Biomol Biomed 2023 Feb 1;23(1):89-100. doi: 10.17305/bjbms.2022.7567. PMID: 35880347Free PMC Article
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
Kidney360 2020 Sep 24;1(9):936-942. Epub 2020 Jul 16 doi: 10.34067/KID.0000372019. PMID: 35369551Free PMC Article
Midterm Outcome of Kidney Transplantation From Donors With Thin Basement Membrane Nephropathy.
Choi C, Ahn S, Min SK, Ha J, Ahn C, Kim Y, Lee H, Min SI
Transplantation 2018 Apr;102(4):e180-e184. doi: 10.1097/TP.0000000000002089. PMID: 29334529
Thin basement membrane nephropathy.
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY
Kidney Int 2003 Oct;64(4):1169-78. doi: 10.1046/j.1523-1755.2003.00234.x. PMID: 12969134
Type-IV collagen related diseases.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A
J Nephrol 2003 Mar-Apr;16(2):314-6. PMID: 12768082

Clinical prediction guides

Tubulointerstitial B-cell infiltration and tertiary lymphoid tissue in adult-onset immunoglobulin A vasculitis with nephritis.
Togashi R, Tamura Y, Arai S, Asakawa S, Yamazaki O, Uchida S, Shibata S, Fujigaki Y
Int Urol Nephrol 2023 Mar;55(3):749-758. Epub 2022 Sep 26 doi: 10.1007/s11255-022-03373-4. PMID: 36155873
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Familial hematuria: A review.
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Metabolic risk factors in children with asymptomatic hematuria.
Spivacow FR, Del Valle EE, Rey PG
Pediatr Nephrol 2016 Jul;31(7):1101-6. Epub 2016 Feb 25 doi: 10.1007/s00467-015-3282-4. PMID: 26913725
Immunopathologic and histologic studies on benign recurrent hematuria. Clinicopathologic similarities with IgA nephropathy.
Nomoto Y, Sakai H, Arimori S, Iwagaki H, Osamura RY, Hata J, Tamaoki N
Am J Pathol 1979 Jan;94(1):51-64. PMID: 569980Free PMC Article

Recent systematic reviews

Ureteroscopic evaluation and treatment of benign essential hematuria: a systematic review.
Tadros NN, Conlin MJ
Can J Urol 2021 Feb;28(1):10510-10515. PMID: 33625340

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