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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

Recent clinical studies

Etiology

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
Kajimoto Y, Endo Y, Terasaki M, Kunugi S, Igarashi T, Mii A, Terasaki Y, Shimizu A
Clin Exp Nephrol 2019 May;23(5):638-649. Epub 2019 Jan 28 doi: 10.1007/s10157-018-01687-1. PMID: 30687875
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
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
Hoshino Y, Kaga T, Abe Y, Endo M, Wakai S, Tsuchiya K, Nitta K
Clin Exp Nephrol 2015 Oct;19(5):918-24. Epub 2015 Feb 13 doi: 10.1007/s10157-015-1090-6. PMID: 25672293Free PMC Article

Diagnosis

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
Tadros NN, Conlin MJ
Can J Urol 2021 Feb;28(1):10510-10515. PMID: 33625340
Kajimoto Y, Endo Y, Terasaki M, Kunugi S, Igarashi T, Mii A, Terasaki Y, Shimizu A
Clin Exp Nephrol 2019 May;23(5):638-649. Epub 2019 Jan 28 doi: 10.1007/s10157-018-01687-1. PMID: 30687875
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
Hoshino Y, Kaga T, Abe Y, Endo M, Wakai S, Tsuchiya K, Nitta K
Clin Exp Nephrol 2015 Oct;19(5):918-24. Epub 2015 Feb 13 doi: 10.1007/s10157-015-1090-6. PMID: 25672293Free PMC Article

Therapy

Tadros NN, Conlin MJ
Can J Urol 2021 Feb;28(1):10510-10515. PMID: 33625340

Prognosis

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
Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C
BMC Nephrol 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5. PMID: 29764427Free PMC Article
Li A, Gao EZ, Cui YX, Liu JH, Lv X, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ
Cytogenet Genome Res 2018;154(1):30-36. Epub 2018 Feb 15 doi: 10.1159/000486979. PMID: 29669314
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
Yuan L, Xu H, Yuan J, Deng X, Xiong W, Yang Z, Huang Y, Deng H
Clin Biochem 2016 Jul;49(10-11):816-20. Epub 2016 Mar 9 doi: 10.1016/j.clinbiochem.2016.01.026. PMID: 26968105

Clinical prediction guides

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
Kajimoto Y, Endo Y, Terasaki M, Kunugi S, Igarashi T, Mii A, Terasaki Y, Shimizu A
Clin Exp Nephrol 2019 May;23(5):638-649. Epub 2019 Jan 28 doi: 10.1007/s10157-018-01687-1. PMID: 30687875
Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C
BMC Nephrol 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5. PMID: 29764427Free PMC Article
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
Yuan L, Xu H, Yuan J, Deng X, Xiong W, Yang Z, Huang Y, Deng H
Clin Biochem 2016 Jul;49(10-11):816-20. Epub 2016 Mar 9 doi: 10.1016/j.clinbiochem.2016.01.026. PMID: 26968105

Recent systematic reviews

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