Diagnosis of X-linked Alport syndrome
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Keywords:
hematuria, X-linked Alport syndrome, glomerular basement membrane, type IV collagen, COL4A5Abstract
In the study, the gene COL4A5 was genotyped by direct sequencing of the family with X-linked Alport syndrome. Based on the results of genotyping of both members of the family identified previously described mutation ekzone2204G 25> A, due to the replacement of glycine with glutamic acid in position 735. They are the carriers of the heterozygous mutation allele B25 exon (Gly735Glu). As a result, it can be concluded the mutation Gly735Glu, is pathogenic and associated with juvenile type of hereditary nephritis, which is characterized by early development of chronic renal failure (16 years).References
1 Billy G. Hudson, Karl Tryggvason, Munirathinam Sundaramoorthy et all.Alport’s Syndrome, Goodpasture’s Syndrome,and
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3 J. Philippe Jais, B. Knebelmann, I. Giatras, M. de Marchi et all. X-linked Alport Syndrome: Natural History in 195 Families
and Genotype- Phenotype Correlations in Males // J Am Soc Nephrol. - 2000. - vol.11. - P.649–657.
4 Spear GS, Slusser RJ. Alport’s syndrome emphasizing electron microscopic studies of the glomerulus // Am J Pathol. - 1972.
- №2. - 213–24.
5 Dominic C. Glomerular pathology in Alport syndrome: a molecular perspective // Pediatr Nephrol. - 2012. - №6. - P.885–
890.
6 Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV
collagen // N Engl J Med. – 2003. 348: - P.2543–2556.
7 LeBleu VS, Macdonald B, Kalluri R. Structure and function of basement membranes // Exp Biol Med (Maywood). – 2007.
232:- P.1121–1129.
8 Khoshnoodi J, Pedchenko V, Hudson BG. Mammalian collagen IV // Microsc Res Tech. – 2008. 71: - P.357–1370
9 Deltas C., Pierides A., Voskarides K. The role of molecular genetics in diagnosing familial hematuria(s) // Pediatr Nephrol. –
2011. published online
10 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, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C,
Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women
belonging to to 195 families: a “European Community Alport Syndrome Concerted Action” study // J Am Soc Nephrol. -2003. - №4.
- P.2603–2610.
Type IV Collagen // N Engl J Med. - 2003. - vol. 348. - P.2543–56.
2 Clifford E. Kashtan. Familial hematuria // Pediatr Nephrol. - 2009. - vol.24. -P.1951–1958.
3 J. Philippe Jais, B. Knebelmann, I. Giatras, M. de Marchi et all. X-linked Alport Syndrome: Natural History in 195 Families
and Genotype- Phenotype Correlations in Males // J Am Soc Nephrol. - 2000. - vol.11. - P.649–657.
4 Spear GS, Slusser RJ. Alport’s syndrome emphasizing electron microscopic studies of the glomerulus // Am J Pathol. - 1972.
- №2. - 213–24.
5 Dominic C. Glomerular pathology in Alport syndrome: a molecular perspective // Pediatr Nephrol. - 2012. - №6. - P.885–
890.
6 Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV
collagen // N Engl J Med. – 2003. 348: - P.2543–2556.
7 LeBleu VS, Macdonald B, Kalluri R. Structure and function of basement membranes // Exp Biol Med (Maywood). – 2007.
232:- P.1121–1129.
8 Khoshnoodi J, Pedchenko V, Hudson BG. Mammalian collagen IV // Microsc Res Tech. – 2008. 71: - P.357–1370
9 Deltas C., Pierides A., Voskarides K. The role of molecular genetics in diagnosing familial hematuria(s) // Pediatr Nephrol. –
2011. published online
10 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, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C,
Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women
belonging to to 195 families: a “European Community Alport Syndrome Concerted Action” study // J Am Soc Nephrol. -2003. - №4.
- P.2603–2610.
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How to Cite
Baikara, B. T., Rahimova, S. E., & Nigmatullina, N. B. (2015). Diagnosis of X-linked Alport syndrome. Experimental Biology, 59(3/2), 22–25. Retrieved from https://bb.kaznu.kz/index.php/biology/article/view/860
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MODERN PROBLEMS OF BIOMEDICINE and BIOPHYSICS
