Prognostic Value of glomerular collagen IV immunofluorescence studies in male patients with X-linked alport syndrome

Clinical Journal of the American Society of Nephrology

Volumn 8, Issue 5, 2013, Pages 749-755

  Massella, Laura ^a   Gangemi, Concetta ^a   Giannakakis, Kostas ^b   Crisafi, Antonella ^a   Faraggiana, Tullio ^b   Fallerini, Chiara ^c   Renieri, Alessandra ^c,d   Muda, Andrea Onetti ^e   Emma, Francesco ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

^e UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; AUTOANTIGEN; BIOLOGICAL MARKER; COL4A1 PROTEIN, HUMAN; COL4A5 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADOLESCENT; ALPORT SYNDROME; ARTICLE; CHILD; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; GLOMERULUS BASEMENT MEMBRANE; GLOMERULUS FILTRATION RATE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; MALE; PROGNOSIS; PROTEIN EXPRESSION; PROTEINURIA; RETROSPECTIVE STUDY; SCHOOL CHILD; ADULT; AGE; BIOPSY; CHEMISTRY; DISEASE COURSE; FLUORESCENCE MICROSCOPY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; INFANT; KAPLAN MEIER METHOD; METABOLISM; NEPHRITIS; PATHOLOGY; PATHOPHYSIOLOGY; PREDICTIVE VALUE; PRESCHOOL CHILD; TIME; YOUNG ADULT;

ADOLESCENT; ADULT; AGE FACTORS; AUTOANTIGENS; BIOLOGICAL MARKERS; BIOPSY; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DISEASE PROGRESSION; FLUORESCENT ANTIBODY TECHNIQUE; GLOMERULAR BASEMENT MEMBRANE; GLOMERULAR FILTRATION RATE; HUMANS; INFANT; KAPLAN-MEIER ESTIMATE; MALE; MICROSCOPY, FLUORESCENCE; NEPHRITIS, HEREDITARY; PREDICTIVE VALUE OF TESTS; PROGNOSIS; PROTEINURIA; RETROSPECTIVE STUDIES; TIME FACTORS; YOUNG ADULT;

EID: 84877771478     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.07510712     Document Type: Article

References (27)

1. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227, 1990
2. Tryggvason K, Zhou J, Hostikka SL, Shows TB: Molecular genetics of Alport syndrome. Kidney Int 43: 38-44, 1993
3. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M: X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 58: 1192-1204, 1996
4. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC: X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 11: 649-657, 2000
5. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C: Autosomal recessive Al-port syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 47: 1142-1147, 1995
6. Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I: Autosomal recessive Alport syndrome: An in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant 21: 665-671, 2006
7. Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP: Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 12: 1595-1599, 1997
8. Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombola G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F: Au-tosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant 24: 1464-1471, 2009
9. Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A: Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 65: 1598-1603, 2004
10. Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M: Advances inAlport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet 20: 50-57, 2012
11. Barsotti P, Muda AO, Mazzucco G, Massella L, Basolo B, De Marchi M, Rizzoni G, Monga G, Faraggiana T: Distribution of a-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome. Nephrol Dial Transplant 16: 945-952, 2001
12. Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y: Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 46: 1413-1421, 1994
13. Mazzucco G, Barsotti P, Onetti Muda A, Fortunato M, Faraggiana T, De Marchi M, Monga G: Expression of alpha (IV) chains in Alport's syndrome and its correlation with ultrastructural and genetic data. Contrib Nephrol 122: 129-131, 1997
14. Heidet L, Cai Y, Guicharnaud L, Antignac C, Gubler MC: Glo-merular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. Am J Pathol 156: 1901-1910, 2000
15. Krichen Makni S, Kharrat M, Ben Hmida M, Chaker H, Gubler MC, Antignac C, Jlidi R, Hachicha J, Sellami Boudwara T: [Im-munohistochemistry contribution in Alport syndrome diagnosis]. Rev Med Interne 26: 583-587, 2005
16. Schwartz GJ, Work DF: Measurement and estimation of GFR in children and adolescents. Clin J Am Soc Nephrol 4: 1832-1843, 2009
17. Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M: Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am J Med Genet 59: 380-385, 1995
18. Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M: De-novo COL4A5 gene mutations in Alport's syndrome. Nephrol Dial Transplant 9: 1408-1411, 1994
19. Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, Basolo B, Piccoli G, De Marchi M: Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. Hum Genet 92: 417-420, 1993
20. Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW: Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol 21: 876-883, 2010
21. Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M: Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling. Nephrol Dial Transplant 17: 1218-1227, 2002
22. Harvey SJ, Zheng K, Sado Y, Naito I, Ninomiya Y, Jacobs RM, Hudson BG, Thorner PS: Role of distinct type IV collagen networks in glomerular development and function. Kidney Int 54: 1857-1866, 1998
23. Miner JH, Sanes JR: Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. J Cell Biol 135: 1403-1413, 1996
24. Cosgrove D, Meehan DT, Grunkemeyer JA, Kornak JM, Sayers R, Hunter WJ, Samuelson GC: Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome. Genes Dev 10: 2981-2992, 1996
25. LeBleu V, Sund M, Sugimoto H, Birrane G, Kanasaki K, Finan E, Miller CA, Gattone VH, McLaughlin H, Shield CF, Kalluri R: Identification of the NC1 domain of a3 chain as critical for a3a4a5 type IV collagen network assembly. J Biol Chem 285: 41874-41885, 2010
26. Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG: Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med 348: 2543-2556, 2003
27. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC: X-linked Alport syndrome: Natural history and ge-notype-phenotype correlations in girls and women belonging to 195 families: A "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 14: 2603-2610, 2003