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RARE DISEASES IN THE PRACTICE OF «ADULT» NEPHROLOGISTS: INHERITED NEPHRITIS (ALPORT SYNDROME), THE THIN BASEMENT MEMBRANE DISEASE, OLIGOMEGANEPHRONIA

https://doi.org/10.24884/1561-6274-2008-12-3-99-109

About the Authors

I. G. Kayukov
Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова
Russian Federation


A. M. Essaian
Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова
Russian Federation


A. V. Smirnov
Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова
Russian Federation


V. G. Sipovsky
Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова
Russian Federation


A. G. Kucher
Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова
Russian Federation


References

1. OMIM. Online Mendelian Inheretence in Man. http://www.ncbi.nlm.nih.gov/sites/entrez

2. Игнатова МС, Вельтищев ЮЕ. Детская нефрология. Л., Медицина, 1989; 445

3. Appel GB, Radhakrishnan J, D’Agati V. Secondary glomerular disease. In: Brenner BM, ed. The Kidney, sixth edition, 2000, W. B. Saunders, Philadelphia et al.; 1350-1448

4. Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol 2008;4(1): 24-37

5. Clifford E, Kashtan MD, Alfred F, Michael MD. Alport syndrome: From bedside to genome to bedside. Am J Kidney Dis 1993; 5: 627-640

6. Heath KE, Campos-Barros A, Toren A et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045

7. Kashtan CE. Alport syndrome and the X-chromosome: implications of a diagnosis of Alport syndrome in females. Nephrol Dial Transplant 2007; 22: 1499-1505

8. Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplantation 2006; 10: 651-657

9. Tryggvason K, Patrakka J. Thin basement membrane nephropathy. J Am Soc Nephrol 2006; 17: 813-822

10. Welling LW, Granthem JJ. Cystic and developmental diseases of kidney. In; Brenner BM, ed. Вrenner & Rector. The Kydney 4 th ed. Saunderas, Philadelphia et al, 1998: Vol. 2, Chap. 38

11. Potter EL. Normal and abnormal development of the kidney. Medical Publishers, Chicago, 1972

12. Schwarz RD, Stephens FD, Cussen LJ. The pathogenesis of renal dysplasia. III. Complete and incomplete urinary obstruction. Invest Urol 1981; 19: 101-105

13. Salomon R, Tellier AL, Bitach TA. PAX2 mutations in oligomeganephronia. Kidney Int 2001; 59: 457-461

14. Drukker A. Oligonephropathy: from a rare childhood disorder to a possible health problem in the adult. Isr Med Assoc J 2002; 4 (3): 191-195


Review

For citations:


Kayukov I.G., Essaian A.M., Smirnov A.V., Sipovsky V.G., Kucher A.G. RARE DISEASES IN THE PRACTICE OF «ADULT» NEPHROLOGISTS: INHERITED NEPHRITIS (ALPORT SYNDROME), THE THIN BASEMENT MEMBRANE DISEASE, OLIGOMEGANEPHRONIA. Nephrology (Saint-Petersburg). 2008;12(3):99-109. (In Russ.) https://doi.org/10.24884/1561-6274-2008-12-3-99-109

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ISSN 1561-6274 (Print)
ISSN 2541-9439 (Online)