Guidelines for Genetic Testing and Management of Alport Syndrome

被引：97

作者：

Savige, Judy ^{[1
]}

Lipska-Zietkiewicz, Beata S. ^{[2
,3
]}

Watson, Elizabeth ^{[4
]}

Hertz, Jens Michael ^{[5
]}

Deltas, Constantinos ^{[6
]}

Mari, Francesca ^{[7
]}

Hilbert, Pascale ^{[8
]}

Plevova, Pavlina ^{[9
,10
]}

Byers, Peter ^{[11
,12
]}

Cerkauskaite, Agne ^{[13
]}

Gregory, Martin ^{[14
]}

Cerkauskiene, Rimante ^{[15
]}

Ljubanovic, Danica Galesic ^{[16
]}

Becherucci, Francesca ^{[17
]}

Errichiello, Carmela ^{[17
]}

Massella, Laura ^{[18
]}

Aiello, Valeria ^{[19
]}

Lennon, Rachel ^{[20
]}

Hopkinson, Louise ^{[20
]}

Koziell, Ania ^{[21
]}

Lungu, Adrian ^{[22
]}

Rothe, Hansjorg Martin ^{[23
]}

Hoefele, Julia ^{[24
]}

Zacchia, Miriam ^{[25
]}

Martic, Tamara Nikuseva ^{[26
]}

Gupta, Asheeta ^{[27
]}

van Eerde, Albertien ^{[28
]}

Gear, Susie ^{[29
]}

Landini, Samuela ^{[30
]}

Palazzo, Viviana ^{[31
]}

al-Rabadi, Laith ^{[32
]}

Claes, Kathleen ^{[33
]}

Corveleyn, Anniek ^{[34
,35
]}

Van Hoof, Evelien ^{[34
,35
]}

van Geel, Micheel ^{[36
]}

Williams, Maggie ^{[37
]}

Ashton, Emma ^{[38
]}

Belge, Hendica ^{[39
]}

Ars, Elisabet ^{[40
]}

Bierzynska, Agnieszka ^{[41
]}

Gangemi, Concetta ^{[42
]}

Renieri, Alessandra ^{[7
]}

Storey, Helen ^{[43
]}

Flinter, Frances ^{[44
]}

机构：

[1] Univ Melbourne, Dept Med Melbourne Hlth & Northern Hlth, Parkville, Vic, Australia

[2] Med Univ Gdansk, Ctr Rare Dis, Gdansk, Poland

[3] Med Univ Gdansk, Clin Genet Unit, Gdansk, Poland

[4] North Bristol Trust, South West Genet Lab Hub, Bristol, Avon, England

[5] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

[6] Univ Cyprus, Ctr Excellence Biobanking & Biomed Res, Med Sch, Nicosia, Cyprus

[7] Univ Siena, Dept Med Biotechnol, Med Genet, Siena, Italy

[8] Inst Pathol & Genet, Dept Biol Mol, Gosselies, Belgium

[9] Univ Hosp Ostrava, Dept Med Genet, Ostrava, Czech Republic

[10] Univ Hosp Ostrava, Dept Biomed Sci, Ostrava, Czech Republic

[11] Univ Washington, Dept Pathobiol, Seattle, WA 98195 USA

[12] Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA

[13] Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania

[14] Univ Utah Hlth, Dept Med, Div Nephrol, Salt Lake City, UT USA

[15] Vilnius Univ, Inst Clin Med, Clin Pediat, Fac Med, Vilnius, Lithuania

[16] Univ Zagreb, Dubrava Univ Hosp, Sch Med, Dept Pathol, Zagreb, Croatia

[17] Meyer Childrens Univ Hosp, Nephrol Unit, Florence, Italy

[18] Bambino Gesu Pediat Hosp, Div Nephrol & Dialysis, Rome, Italy

[19] Univ Bologna, S Orsola Hosp, Dialysis & Renal Transplant Unit, Dept Expt Diagnost & Specialty Med, Bologna, Italy

[20] Univ Manchester, Wellcome Ctr Cell Matrix Res, Fac Biol Med & Hlth, Div Cell Matrix Biol & Regenerat Med,Sch Biol Sci, Manchester, Lancs, England

[21] Kings Coll London, Sch Immunol & Microbial Sci, Fac Life Sci, London, England

[22] Fundeni Clin Inst, Pediat Nephrol Dept, Bucharest, Romania

[23] Ctr Nephrol & Metab Disorders, Weisswasser, Germany

[24] Tech Univ Munich, Inst Human Genet, Munich, Germany

[25] Univ Campania, Nephrol Unit, Naples, Italy

[26] Univ Zagreb, Dept Biol, Sch Med, Zagreb, Croatia

[27] Birmingham Childrens Hosp, Birmingham, W Midlands, England

[28] Univ Med Ctr, Dept Genet, Utrecht, Netherlands

[29] Alport UK, Cirencester, England

[30] Univ Florence, Dept Clin & Expt Biomed Sci Mario Serio, Med Genet Unit, Florence, Italy

[31] Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy

[32] Univ Utah, Hlth Sci Ctr, Salt Lake City, UT USA

[33] Katholieke Univ Leuven, Univ Hosp Leuven, Dept Nephrol & Renal Transplantat, Leuven, Belgium

[34] Univ Hosp, Ctr Human Genet, Leuven, Belgium

[35] Katholieke Univ Leuven, Leuven, Belgium

[36] Maastricht Univ Ctr, Dept Clin Genet, Maastricht, Netherlands

[37] Southmead Hosp, Bristol Genet Lab Pathol Sci, Southmead, England

[38] Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England

[39] Ctr Human Genet, Inst Pathol Genet, Gosselies, Belgium

[40] Univ Autonoma Barcelona, Inst Invest Biomed Sant Pau, Inst Invest Carlos III, Fundacio Puigvert,Mol Biol Lab, Barcelona, Spain

[41] Univ Bristol, Bristol Med Sch, Bristol Renal Unit, Bristol, Avon, England

[42] Univ Hosp Verona, Div Nephrol & Dialysis, Verona, Italy

[43] Guys Hosp, Viapath Labs, Mol Genet, London, England

[44] Guys & St Thomas Natl Hlth Serv Fdn Trust, Dept Clin Genet, London, England

来源：

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2022年 / 17卷 / 01期

关键词：

Alport syndrome; genetic testing; thin basement membrane nephropathy; collagen IV; digenic Alport syndrome; FSGS; kidney cysts; GENOTYPE-PHENOTYPE CORRELATIONS; GLOMERULAR-BASEMENT-MEMBRANE; KIDNEY-TRANSPLANTATION; DIGENIC INHERITANCE; RENAL-FAILURE; COL4A3/COL4A4; MUTATIONS; MICROSCOPIC HEMATURIA; FAMILIAL HEMATURIA; SEQUENCE VARIANTS; NATURAL-HISTORY;

D O I：

10.2215/CJN.04230321

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：143 / 154

页数：12

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