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Pregled bibliografske jedinice broj: 1197195

Guidelines for genetic testing and management of Alport syndrome

Savige Judy; Lipska-Zietkiewicz S, Beata; Watso, Elizabeth; Michael Hertz, Jens; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne et al.
Guidelines for genetic testing and management of Alport syndrome // Clinical Journal of the American Society of Nephrology, 17 (2022), 1; 143-154 doi:10.2215/CJN.04230321 (međunarodna recenzija, članak, stručni)

CROSBI ID: 1197195 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Guidelines for genetic testing and management of Alport syndrome

Autori
Savige Judy ; Lipska-Zietkiewicz S, Beata ; Watso, Elizabeth ; Michael Hertz, Jens ; Deltas, Constantinos ; Mari, Francesca ; Hilbert, Pascale ; Plevova, Pavlina ; Byers, Peter ; Cerkauskaite, Agne ; Gregory, Martin ; Cerkauskiene, Rimante ; Galešić Ljubanović, Danica ; Becherucci, Francesca ; Errichiello, Carmela ; Massella, Laura ; Aiello, Valeria ; Lennon, Rachel ; Hopkinson, Louise ; Koziell, Ania ; Lungu, Adrian ; Rothe, Hansjorg Martin ; Hoefele, Julia ; Zacchia, Miriam ; Nikuševa Martić, Tamara ; Gupta, Asheeta ; Van Eerde, Albertien ; Gear, Susie, Landini, Samuela ; Palazzo, Viviana ; Al- Rabadi, Laith ; Claes, Kathleen ; Corveleyn, Anniek ; Van Hoof, Evelin ; Van Geel, Micheel ; Williams, Maggie ; Ashton, Emma ; Belge, Hendica ; Ars, Elisabeth ; Bierzynska, Agnieszka ; Gangemi, Concetta ; Renieri, Alessandra ; Storey, Helen ; Flinter, Frances

Izvornik
Clinical Journal of the American Society of Nephrology (1555-9041) 17 (2022), 1; 143-154

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Alport syndrome ; COL4A3 ; COL4A4 ; COL4A5 ; FSGS ; collagen IV ; digenic Alport syndrome ; genetic testing ; kidney cysts ; thin basement membrane nephropathy.

Sažetak
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first- degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid- resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
--IP-2014-09-2151 - Genotip-fenotip korelacija u Alportovom sindromu i nefropatiji tankih glomerularnih bazalnim membrana (GPofASandTBMN) (Galešić-Ljubanović, Danica) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb,
Klinička bolnica "Dubrava"

Profili:

Avatar Url Danica Galešić Ljubanović (autor)

Avatar Url Tamara Nikuševa Martić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Savige Judy; Lipska-Zietkiewicz S, Beata; Watso, Elizabeth; Michael Hertz, Jens; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne et al.
Guidelines for genetic testing and management of Alport syndrome // Clinical Journal of the American Society of Nephrology, 17 (2022), 1; 143-154 doi:10.2215/CJN.04230321 (međunarodna recenzija, članak, stručni)
Savige Judy, Lipska-Zietkiewicz S, B., Watso, E., Michael Hertz, J., Deltas, C., Mari, F., Hilbert, P., Plevova, P., Byers, P. & Cerkauskaite, A. (2022) Guidelines for genetic testing and management of Alport syndrome. Clinical Journal of the American Society of Nephrology, 17 (1), 143-154 doi:10.2215/CJN.04230321.
@article{article, author = {Lipska-Zietkiewicz S, Beata and Watso, Elizabeth and Michael Hertz, Jens and Deltas, Constantinos and Mari, Francesca and Hilbert, Pascale and Plevova, Pavlina and Byers, Peter and Cerkauskaite, Agne and Gregory, Martin and Cerkauskiene, Rimante and Gale\v{s}i\'{c} Ljubanovi\'{c}, Danica and Becherucci, Francesca and Errichiello, Carmela and Massella, Laura and Aiello, Valeria and Lennon, Rachel and Hopkinson, Louise and Koziell, Ania and Lungu, Adrian and Rothe, Hansjorg Martin and Hoefele, Julia and Zacchia, Miriam and Niku\v{s}eva Marti\'{c}, Tamara and Gupta, Asheeta and Van Eerde, Albertien and Palazzo, Viviana and Al- Rabadi, Laith and Claes, Kathleen and Corveleyn, Anniek and Van Hoof, Evelin and Van Geel, Micheel and Williams, Maggie and Ashton, Emma and Belge, Hendica and Ars, Elisabeth and Bierzynska, Agnieszka and Gangemi, Concetta and Renieri, Alessandra and Storey, Helen and Flinter, Frances}, year = {2022}, pages = {143-154}, DOI = {10.2215/CJN.04230321}, keywords = {Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy.}, journal = {Clinical Journal of the American Society of Nephrology}, doi = {10.2215/CJN.04230321}, volume = {17}, number = {1}, issn = {1555-9041}, title = {Guidelines for genetic testing and management of Alport syndrome}, keyword = {Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy.} }
@article{article, author = {Lipska-Zietkiewicz S, Beata and Watso, Elizabeth and Michael Hertz, Jens and Deltas, Constantinos and Mari, Francesca and Hilbert, Pascale and Plevova, Pavlina and Byers, Peter and Cerkauskaite, Agne and Gregory, Martin and Cerkauskiene, Rimante and Gale\v{s}i\'{c} Ljubanovi\'{c}, Danica and Becherucci, Francesca and Errichiello, Carmela and Massella, Laura and Aiello, Valeria and Lennon, Rachel and Hopkinson, Louise and Koziell, Ania and Lungu, Adrian and Rothe, Hansjorg Martin and Hoefele, Julia and Zacchia, Miriam and Niku\v{s}eva Marti\'{c}, Tamara and Gupta, Asheeta and Van Eerde, Albertien and Palazzo, Viviana and Al- Rabadi, Laith and Claes, Kathleen and Corveleyn, Anniek and Van Hoof, Evelin and Van Geel, Micheel and Williams, Maggie and Ashton, Emma and Belge, Hendica and Ars, Elisabeth and Bierzynska, Agnieszka and Gangemi, Concetta and Renieri, Alessandra and Storey, Helen and Flinter, Frances}, year = {2022}, pages = {143-154}, DOI = {10.2215/CJN.04230321}, keywords = {Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy.}, journal = {Clinical Journal of the American Society of Nephrology}, doi = {10.2215/CJN.04230321}, volume = {17}, number = {1}, issn = {1555-9041}, title = {Guidelines for genetic testing and management of Alport syndrome}, keyword = {Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy.} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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