A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: Genetic analysis of COL4A5 to COL4A6 and immunostaining for typr IV collagen subtypes

Clinical Nephrology

Volumn 64, Issue 2, 2005, Pages 144-150

  Sugimoto, K ^a   Yanagida, H ^a   Yagi, K ^a   Kuwajima, H ^a   Okada, M ^a   Takemura, T ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Alport syndrome; COL4A5; COL4A6; Leiomyomatosis; X linked inheritance

Indexed keywords

COLLAGEN TYPE 4; CYCLOSPORIN;

ALPORT SYNDROME; ARTICLE; ASPIRATION PNEUMONIA; BASEMENT MEMBRANE; CASE REPORT; CATARACT; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; ESOPHAGOGRAPHY; ESOPHAGUS RESECTION; ESOPHAGUS STENOSIS; ESOPHAGUS TUMOR; EXON; FAMILY STUDY; GENE DELETION; GENETIC ANALYSIS; HEMATURIA; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; INHERITANCE; JAPAN; KIDNEY BIOPSY; KIDNEY FUNCTION; LAPAROSCOPIC SURGERY; LEIOMYOMATOSIS; MALE; MOLECULAR GENETICS; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PROTEINURIA; SKIN BIOPSY; X CHROMOSOME LINKAGE;

EID: 23144448337     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp64144     Document Type: Article

References (28)

1. Alport A 1927 Hereditary familial congenital haemorrhagic nephritis. Br Med J 1: 504-506
2. Antignac C, Zhou J, Sanak M, Cochat P, Roussel P, Deschenes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K, Gubler MC 1992 Alport syndrome and diffuse esophageal leiomyomatosis: Deletion in the 5′ end of the COL4A5 collagengene. Kidney Int 32: 1178-1183
3. Barker D, Hostikka S, Zhou J, Chow L, Oliphant A, Gerken S, Gregory M, Skolnick M, Atkins C 1990 Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227
4. Callis L, Vila A, Carrera M, Nieto J 1999 Long-term effects of cyclosporin A in Alport's syndrome. Kidney Int 55: 1051-1056
5. Chen D, Jefferson B, Harvey SJ, Zheng K, Gartley CJ, Jacobs RM, Thorner PS 2003 Cyclosporin A slows the progressive renal disease of Alport syndrome (X-linked hereditary nephritis): results from a canine model. J Am Soc Nephrol 14: 690-698
6. Garcia- Torres R, Orozco L 1993 Alport-leiomyomatosis syndrome: an update. Am J Kidney Dis 22: 641-648
7. Gubler M-C, Heidet L, Antignac C 1998 Alport's syndrome, thin basement membrane nephropathy, Nail-patella syndrome, and type III collagen glomerulopathy. In: Jennette J, Olson J, Schwartz M (eds) Heptinstall's Pathology of the Kidney (vol 2, ed 5). Lippinccott-Raven Publishers, Philadelphia PA, pp 1207-1230
8. Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould J, Lepping K, Proesmans W, Guyot C, Guillot M, Roussel B, Tryggvason K, Grunfeld JP Gubler MC, Antignac C 1995 Deletion of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle cell tumors. Hum Mol Genet 4: 99-108
9. Heidet L, Cohen Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C 1997a Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cyto Cell Genet 78: 240-246
10. Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnaud L, Boye E, Chauvet V, Solal LC, Beziau A, Torres RG, Antignac C, Gubler MC 1997b Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization. Lab Invest 76: 233-243
11. Hino S, Takemura T, Sado Y, Kagawa M, Oohashi T, Ninomiya Y, Yoshioka K 1996 Absence of α6(IV) collagen in kidney and skin of X-linked Alport syndrome patients. Pediatir Nephrol 10: 742-744
12. Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggavoson K 1990 Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of the gene to the locus of X chromosome-linked Alport syndrome. Pro Natl Acad Sci USA 87: 1606-1610
13. Hudson B, Reeders S, Tryggavason K 1993 Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and leiomyomatosis. J Biol Chem 268: 26033-26036
14. Kashtan C 1998 Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol 9: 1736-1750
15. Lemmink HH, Schroder CH, Monnens LAH, Smeets HJM 1997 The clinical spectrum of type IV collagen mutations. Hum Mutat 9: 477-499
16. Lerone M, Dodero P, Romeo G, Martuciello G, Caffarena T, Brisigotti M, Toma P, Taccone A, Silengo M 1991 Leiomyomatosis of the oesophagus, congenital cataracts, and hematuria. Report of a case with rectal involvement. Pediatr Radiol 21: 578-579
17. Lonsdale RN, Roberts PF, Vaughan R, Thiru S 1992 Familial oesophageal leiomyomatosis and nephropathy. Histopathol 20: 127-133
18. Lyon MF 1972 X-chromosome inactivation and developmental patterns in mammals. Biol Rev 47: 1-35
19. Mothes H, Heidet L, Arrondel C, Richter KK, Thiele M, Patzer L, Sado Y, Gubler MC, Antignac C, Scheele J 2002 Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion with a mild form of Alport nephropathy. Nephrol Dial Transplant 17: 70-74
20. Oohashi T, Sugimoto M, Matei M-G, Nimomiya Y 1994 Identification of a new collagen IV chain, α6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5. J Biol Chem 269: 7520-7526
21. Sado Y, Kagawa M, Kishiro Y, Sugihara K, Naito I, Seyer J, Sugimoto M, Oohashi T, Nimomiya Y 1995 Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different a chains of human type IV collagen. Histochem Cell Biol 104: 267-275
22. Takemura T, Hino S, Kuwajima H, Yanagida H, Okada M, Nagata M, Sasaki S, Barasch J, Harris RC, Yoshioka K 2001 Induction of collecting duct morphogenesis in vitro by heparin-binding epidermal growth factor-like growth factor. J Am Soc Nephrol 12: 964-972
23. Takemura T, Hino S, Okada M, Murata Y, Yanagida H, Ikeda M, Yoshioka K, Harris RC 2002 Potential role of membrane bound heparin-binding epidermal growth factor-like growth factor (HB-EGF) in renal epithelial cell branching. Kidney Int 61: 1968-1979
24. Yoshioka K, Michael A, Velosa J, Fish A 1985 Detection of hidden nephritogenic antigenic determinants in human renal and non-renal basement membranes. Am J Pathol 121: 156-165
25. Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan C 1994 Type IV collagen α5 chain: normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 144: 986-996
26. Zhou J, Smeets H, Antignac C, Laurila P, Paepe A de, Tryggavason K, Reeders ST 1993 Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors. Science 261: 1167-1169
27. Zhou J, Ding M, Zhao Z, Reeders ST 1994 Complete primary structure of the sixth chain of human basement membrane collagen, α6(IV): isolation of the cDNAs for α6(IV) and comparison with five other type IV collagen chains. J Biol Chem 269: 13193-13199
28. Zhou J, Reeders S 1996 The α chains of type IV collagen. Contrib Nephrol 117: 80-105