Guidelines for Genetic Testing and Management of Alport Syndrome
Por:
Savige, J, Lipska-Zietkiewicz, BS, Watson, E, Hertz, JM, Deltas, C, 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, Renieri, A, Storey, H, Flinter, F
Publicada:
1 ene 2022
Ahead of Print:
1 dic 2021
Resumen:
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.
Filiaciones:
Savige, J:
Univ Melbourne, Dept Med Melbourne Hlth & Northern Hlth, Parkville, Vic, Australia
Lipska-Zietkiewicz, BS:
Med Univ Gdansk, Ctr Rare Dis, Gdansk, Poland
Med Univ Gdansk, Clin Genet Unit, Gdansk, Poland
Watson, E:
North Bristol Trust, South West Genet Lab Hub, Bristol, Avon, England
Hertz, JM:
Odense Univ Hosp, Dept Clin Genet, Odense, Denmark
Deltas, C:
Univ Cyprus, Ctr Excellence Biobanking & Biomed Res, Med Sch, Nicosia, Cyprus
Mari, F:
Univ Siena, Dept Med Biotechnol, Med Genet, Siena, Italy
Hilbert, P:
Inst Pathol & Genet, Dept Biol Mol, Gosselies, Belgium
Plevova, P:
Univ Hosp Ostrava, Dept Med Genet, Ostrava, Czech Republic
Univ Hosp Ostrava, Dept Biomed Sci, Ostrava, Czech Republic
Byers, P:
Univ Washington, Dept Pathobiol, Seattle, WA 98195 USA
Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA
Cerkauskaite, A:
Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania
Gregory, M:
Univ Utah Hlth, Dept Med, Div Nephrol, Salt Lake City, UT USA
Cerkauskiene, R:
Vilnius Univ, Inst Clin Med, Clin Pediat, Fac Med, Vilnius, Lithuania
Ljubanovic, DG:
Univ Zagreb, Dubrava Univ Hosp, Sch Med, Dept Pathol, Zagreb, Croatia
Becherucci, F:
Meyer Childrens Univ Hosp, Nephrol Unit, Florence, Italy
Errichiello, C:
Meyer Childrens Univ Hosp, Nephrol Unit, Florence, Italy
Massella, L:
Bambino Gesu Pediat Hosp, Div Nephrol & Dialysis, Rome, Italy
Aiello, V:
Univ Bologna, S Orsola Hosp, Dialysis & Renal Transplant Unit, Dept Expt Diagnost & Specialty Med, Bologna, Italy
Lennon, R:
Univ Manchester, Wellcome Ctr Cell Matrix Res, Fac Biol Med & Hlth, Div Cell Matrix Biol & Regenerat Med,Sch Biol Sci, Manchester, Lancs, England
Hopkinson, L:
Univ Manchester, Wellcome Ctr Cell Matrix Res, Fac Biol Med & Hlth, Div Cell Matrix Biol & Regenerat Med,Sch Biol Sci, Manchester, Lancs, England
Koziell, A:
Kings Coll London, Sch Immunol & Microbial Sci, Fac Life Sci, London, England
Lungu, A:
Fundeni Clin Inst, Pediat Nephrol Dept, Bucharest, Romania
Rothe, HM:
Ctr Nephrol & Metab Disorders, Weisswasser, Germany
Hoefele, J:
Tech Univ Munich, Inst Human Genet, Munich, Germany
Zacchia, M:
Univ Campania, Nephrol Unit, Naples, Italy
Martic, TN:
Univ Zagreb, Dept Biol, Sch Med, Zagreb, Croatia
Gupta, A:
Birmingham Childrens Hosp, Birmingham, W Midlands, England
van Eerde, A:
Univ Med Ctr, Dept Genet, Utrecht, Netherlands
Gear, S:
Alport UK, Cirencester, England
Landini, S:
Univ Florence, Dept Clin & Expt Biomed Sci Mario Serio, Med Genet Unit, Florence, Italy
Palazzo, V:
Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy
al-Rabadi, L:
Univ Utah, Hlth Sci Ctr, Salt Lake City, UT USA
Claes, K:
Katholieke Univ Leuven, Univ Hosp Leuven, Dept Nephrol & Renal Transplantat, Leuven, Belgium
Corveleyn, A:
Univ Hosp, Ctr Human Genet, Leuven, Belgium
Katholieke Univ Leuven, Leuven, Belgium
Van Hoof, E:
Univ Hosp, Ctr Human Genet, Leuven, Belgium
Katholieke Univ Leuven, Leuven, Belgium
van Geel, M:
Maastricht Univ Ctr, Dept Clin Genet, Maastricht, Netherlands
Williams, M:
Southmead Hosp, Bristol Genet Lab Pathol Sci, Southmead, England
Ashton, E:
Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England
Belge, H:
Ctr Human Genet, Inst Pathol Genet, Gosselies, Belgium
Ars, E:
Univ Autonoma Barcelona, Inst Invest Biomed Sant Pau, Inst Invest Carlos III, Fundacio Puigvert,Mol Biol Lab, Barcelona, Spain
Bierzynska, A:
Univ Bristol, Bristol Med Sch, Bristol Renal Unit, Bristol, Avon, England
Gangemi, C:
Univ Hosp Verona, Div Nephrol & Dialysis, Verona, Italy
Renieri, A:
Univ Siena, Dept Med Biotechnol, Med Genet, Siena, Italy
Storey, H:
Guys Hosp, Viapath Labs, Mol Genet, London, England
Flinter, F:
Guys & St Thomas Natl Hlth Serv Fdn Trust, Dept Clin Genet, London, England
Green Published, All Open Access; Bronze
|