Ocular anomalies occurred in 13 patients (40.6%) in our group, but only 3 patients showed anterior lenticonus, and 2 patients showed perimacular retinal flecks. It had been reported that ocular characteristic changes always occurred in the late stage of Alport syndrome. Relatively long course of disease (13.2 years vs 9.3 years) and lower positive rate of patients with characteristic changes in our group also confirmed this viewpoint. In this study, we also found that the characteristic ocular changes occurred in patients with Alport syndrome, especially the anterior lenticonus, was mostly accompanied by sensorineural deafness and renal failure. The findings may suggest that occurrence of ocular characteristic changes, especially the anterior lenticonus, implies a worse prognosis of patients with Alport syndrome.
In summary, ocular anomalies are not requisite for the diagnosis of Alport syndrome. But ocular examination is a precious help for the diagnosis. Ocular anomalies, especially the typical ones can also determine the prognosis of nephropathy. When confronted with such patients, we should get their renal investigations and audiology examination for an early diagnosis of Alport syndrome and appropriate treatment.
【参考文献】
1 Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1:504506
2 Srinivasan M, Uzel SG, Gautieri A, Keten S, Buehler MJ. Alport Syndrome mutations in type IV tropocollagen alter molecular structure and nanomechanical properties. J Structural Biology 2009;168(3):503510
3 Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Autosomaldominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 2004;65(5):1598 1603
4 Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol 1998;9(9):17361750
5 Flinter F, Chantler C. Alports syndrome: inheritance and clinical features. In: Spitzer A, Auner E, eds. Inheritance of Kidney and Renal Tract Disease. Boston: Kluwer Academic 1990:107
6 Gregory MC, Terreros DA, Barker DF, Fain PN, Denison JC, Atkin CL. Alport syndromeclinical phenotypes, incidence, and pathology. Contrib
Nephrol 1996;117:128
7 Colville DJ, Savige J. Alport syndrome: a review of the ocular manifestation. Ophthalmic Genet 1997;18:161173
8 Kashtam CE, Michael AF. Alport syndrome: from bedside to genome to bedside. Am J Kidney Dis 1993;22:627640
9 Jacobs M,Jeffrey B,Kriss A,Taylor D,Sa G,Barratt TM. Ophthalmologic assessment of young patients with Alport syndrome. Ophthalmology 1992;99:10391044
10 Hentati N, Sellami D, Makni K, Kharrat M, Hachicha J, Hammadi A, Feki J. Ocular findings in Alport syndrome: 32 case studies. J Fr
Ophthalmol 2008;31:597604
11 Govan JA. Ocular manifestation of Alports syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 1983;67:493503
12 Sargon MF, Celik HH, Sener C. Ultrastructure of the lens epithelium in Alports syndrome. Ophthalmogica 1999; 213:3033
13 Junk AK, Stefani FH, Ludwig K. Bilateral anterior lenticonus. Arch
Ophthalmol 2000;118:895897
14 Gehrs KM, Pollock SC, Zilkha G. Clinical features and pathogenesis of Alport retinopathy. Retina 1995;15:305311 上一页 [1] [2] |