Alport综合征眼部表现及其病理机制研究进展
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摘要
Alport综合征(Alport syndrome,AS)是一种累及肾脏、耳、眼的基底膜结构异常的遗传性疾病,发病率约为1∶5000。其眼部异常的报道较少见,但对疾病的诊断却有重要的价值,眼部异常相关病理机制分析将为我们揭开眼部异常发生的真正原因,对于疾病的认识和治疗具有重要意义。
·Alport syndrome(AS) is a genetic disease characterized by abnormal basement membrane structure of the kidneys, ears and eyes. The incidence of the disease is 1∶5000 approximately. The report on ocular manifestations is relatively scarce, however, it is of great value to diagnosis of the disease. The ocular tissue histopathological analysis provides an effective method to uncover the pathological mechanisms of AS. Besides, it is good for understanding and treatment of AS.
·Alport syndrome(AS) is a genetic disease characterized by abnormal basement membrane structure of the kidneys, ears and eyes. The incidence of the disease is 1∶5000 approximately. The report on ocular manifestations is relatively scarce, however, it is of great value to diagnosis of the disease. The ocular tissue histopathological analysis provides an effective method to uncover the pathological mechanisms of AS. Besides, it is good for understanding and treatment of AS.
引文
1 Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1(3454):504-506
2 Sohar E. Renal disease, inner ear deafness, and ocular changes; a newheredofamilial syndrome. AMA Arch Intern Med 1956;97(5):627-630
3 Govan JA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 1983;67(8):493-503
4 Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997;18(4):161-173
5 Savige J, Sheth S, Leys A, et al. Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance. Clin J Am Soc Nephrol 2015;10(4):703-709
6 Junk AK, Stefani FH, Ludwig K.Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule. Arch Ophthalmol 2000;118(7):895-897
7 Jacobs K, Meire FM. Lenticonus. Bull Soc Belge Ophtalmol 2000; 277:65-70
8 Sonarkhan S, Ramappa M, Chaurasia S, et al. Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction. BMJ Case Rep 2014;2014. pii: bcr2013202036
9 Barnard K, Burgers SA, Carter DA. Three-dimensional structure of type IV collagen in the mammalian lens capsule. J Struc Biol 1900;108(1):6-13
10 Streeten BW, Robinson MR, Wallace R, et al. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987;105(12):1693-1697
11 Choi Jh,Na Ks,Bae Sh,et al. Anterior Lens Capsule Abnormalities in Alport Syndrome. Korean J Ophthalmol 2005;19(1):84-89
12 Gelisken O, Hendrikse F, Schroder CH, et al. Retinal abnormalities in Alport's syndrome. Acta Ophthalmol(Copenh) 1988;66(6):713-717
13 Wang Y, Sivakumar V, Mohammad M,et al. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol 2014;29(3):391-396
14 Gehrs KM, Pollock SC, Zilkha G. Clinical features and pathogenesis of Alport retinopathy. Retina 1995;15(4):305-311
15 Shaw EA, Colville D, Wang YY, et al, Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol Dial Transplant 2007;22(1):104-108
16 Hochgesand P,Steinbach PO,Straub E.Ocular manifestations in Alport's syndrome (author's transl). Klin Monbl Augenheilkd 1974;165(3):447-452
17 Polak BC, Hogewind BL. Macular lesions in Alport's disease. Am J Ophthalmol 1977;84(4):532-535
18 Savige J, Liu J, DeBuc DC, et al. Retinal Basement Membrane Abnormalities and the Retinopathy of Alport Syndrome. Invest Ophthalmol Vis Sci 2010;51(3):1621-1627
19 Cho IH, Kim HD, Jung SJ,et al. En face optical coherence tomography findings in a case of Alport syndrome. Indian J Ophthalmol 2017; 65(9): 877-879
20 Ahmed F, Kamae KK, Jones DJ, et al. Temporal macular thinning associated with X-linked Alport syndrome. JAMA Ophthalmol 2013;131(6):777-782
21 Usui T, Ichibe M, Hasegawa S,et al. Symmetrical reduced retinal thickness in a patient with Alport syndrome. Retina 2004;24(6):977-979
22 Snead MP, Snead DR, Mahmood AS, et al. Vitreous detachment and the posterior hyaloid membrane: a clinicopathological study. Eye (Lond) 1994;8(2):204-209
23 Shaikh S,Garretson B,Williams GA. Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. Retina 2003;23(1): 119-120
24 Mete UO, Karaaslan C, Ozbilgin MK, et al. Alport's syndrome with bilateral macular hole. Acta Ophthalmol Scand 1996;74(1): 77-80
25 Moisseiev E,Barak A.Bilateral macular retinoschisis in a patient with x-linked alport syndrome. Retin Cases Brief Rep 2012;6(1):4-6
26 Thomas AS, Baynham JT, Flaxel CJ.Macular holes, vitelliform lesions, and midperipheral retinoschisis in alport syndrome. Retin Cases Brief Rep 2016;10(2):109-111
27 Yasuzumi K, Futagami S, Mochizuki M. Bilateral Serous Retinal Detachment Associated with Alport's Syndrome. Ophthalmologica 2000;214(4):301-304
28 Marmor MF. New hypotheses on the pathogenesis and treatment of serous retinal detachment. Graefes Arch Clin Exp Ophthalmol 1988;226(6):548-552
29 Noble KG, Margolis S, Carr RE. The Golden Tapetal Sheen Reflex in Retinal Disease. Am J Ophthalmol 1989;107(3):211-217
30 Berendschot TT,DeLint PJ, van Norren D. Origin of tapetallike reflexes in carriers of X-liked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996;37(13):2716-2723
31 Guadalupe CC, Graciana FP, Itamar Y, et al. Tapetal-like sheen associated with fleck retinopathy in Alport syndrome. Retina 2003;23(2):245-247
32 Colville D, Wang YY, Tan R, et al. The retinal “lozenge” or “dull macular reflex” in Alportsyndrome may be associated with a severe retinopathy and early-onset renal failure. Br J Ophthalmol 2009;93(3):383-386
33 Kashtan CE. Alport syndrome.An inherited disorder of renal,ocular, and cochlear basement membranes. Medicine (Baltimore)1999;78(5):338-360
34 Set?l? K, Ruusuvaara P.Alport syndrome with hereditary macular degeneration. Acta Ophthalmol(Copenh) 1989;67(4):409-414
35 Savige J,Wang Y,Crawford A, et al. Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome. Ophthalmic Genet 2017;38(3):238-244
36 Grupcheva CN, Chew GS, Edwards M, et al.Imaging posterior polymorphous corneal dystrophy by in vivo confocal microscopy. Clin Exp Ophthalmol 2001;29(4):256-259
37 Teekhasaenee C, Nimmanit S, Wutthiphan S,et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991;98(8):1207-1215
38 Sabates R, Krachmer JH, Weingeist TA. Ocular findings in Alport's syndrome. Ophthalmologica 1983;186(4):204-210
39 Sekundo W, Lee WR, Kirkness CM,et al. An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. Ophthalmology 1994;101(8):1422-1431
40 Laganowski HC, Sherrard ES, Muir MG. The posterior corneal surface in posterior polymorphous dystrophy: A specular microscopical study. Cornea 1991;10(3):224-232
41 Rodrigues MM, Sun TT, Krachmer J, et al. Epithelialization of the cornea lendothelium in posterior polymorphous dystrophy. Invest Ophthalmol Vis Sci 1980;19(7):832-835
42 Kraig S. Bower, MD, Jayson D. et al. Novel Corneal Phenotype in a Patient with Alport Syndrome. Cornea 2009;28(5):599-606
43 Rhys C, Snyers B, Pirson Y. Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. Kidney Int 1997;52(1):208-211
44 Ramamurthi S, Rahman MQ, Dutton GN, et al. Pathogenesis, clinical features and management of recurrent corneal erosions. Eye (Lond) 2006;20(6):635-644
45 Funk SD, Bayer RH, Malone AF, et al. Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.J Am Soc Nephrol 2018;29(3):949-960
46 Wu Y,Chen Y,Chen D,et al. Presence of foam cells in kidney interstitiumis associated with progression of renal injury in patients with glomerular diseases. Nephron Clin Pract 2009;113(3):155-161
47娄楚媛. col4a3 基因敲除对视网膜的影响. 中国医科大学 2018
2 Sohar E. Renal disease, inner ear deafness, and ocular changes; a newheredofamilial syndrome. AMA Arch Intern Med 1956;97(5):627-630
3 Govan JA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 1983;67(8):493-503
4 Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997;18(4):161-173
5 Savige J, Sheth S, Leys A, et al. Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance. Clin J Am Soc Nephrol 2015;10(4):703-709
6 Junk AK, Stefani FH, Ludwig K.Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule. Arch Ophthalmol 2000;118(7):895-897
7 Jacobs K, Meire FM. Lenticonus. Bull Soc Belge Ophtalmol 2000; 277:65-70
8 Sonarkhan S, Ramappa M, Chaurasia S, et al. Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction. BMJ Case Rep 2014;2014. pii: bcr2013202036
9 Barnard K, Burgers SA, Carter DA. Three-dimensional structure of type IV collagen in the mammalian lens capsule. J Struc Biol 1900;108(1):6-13
10 Streeten BW, Robinson MR, Wallace R, et al. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987;105(12):1693-1697
11 Choi Jh,Na Ks,Bae Sh,et al. Anterior Lens Capsule Abnormalities in Alport Syndrome. Korean J Ophthalmol 2005;19(1):84-89
12 Gelisken O, Hendrikse F, Schroder CH, et al. Retinal abnormalities in Alport's syndrome. Acta Ophthalmol(Copenh) 1988;66(6):713-717
13 Wang Y, Sivakumar V, Mohammad M,et al. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol 2014;29(3):391-396
14 Gehrs KM, Pollock SC, Zilkha G. Clinical features and pathogenesis of Alport retinopathy. Retina 1995;15(4):305-311
15 Shaw EA, Colville D, Wang YY, et al, Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol Dial Transplant 2007;22(1):104-108
16 Hochgesand P,Steinbach PO,Straub E.Ocular manifestations in Alport's syndrome (author's transl). Klin Monbl Augenheilkd 1974;165(3):447-452
17 Polak BC, Hogewind BL. Macular lesions in Alport's disease. Am J Ophthalmol 1977;84(4):532-535
18 Savige J, Liu J, DeBuc DC, et al. Retinal Basement Membrane Abnormalities and the Retinopathy of Alport Syndrome. Invest Ophthalmol Vis Sci 2010;51(3):1621-1627
19 Cho IH, Kim HD, Jung SJ,et al. En face optical coherence tomography findings in a case of Alport syndrome. Indian J Ophthalmol 2017; 65(9): 877-879
20 Ahmed F, Kamae KK, Jones DJ, et al. Temporal macular thinning associated with X-linked Alport syndrome. JAMA Ophthalmol 2013;131(6):777-782
21 Usui T, Ichibe M, Hasegawa S,et al. Symmetrical reduced retinal thickness in a patient with Alport syndrome. Retina 2004;24(6):977-979
22 Snead MP, Snead DR, Mahmood AS, et al. Vitreous detachment and the posterior hyaloid membrane: a clinicopathological study. Eye (Lond) 1994;8(2):204-209
23 Shaikh S,Garretson B,Williams GA. Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. Retina 2003;23(1): 119-120
24 Mete UO, Karaaslan C, Ozbilgin MK, et al. Alport's syndrome with bilateral macular hole. Acta Ophthalmol Scand 1996;74(1): 77-80
25 Moisseiev E,Barak A.Bilateral macular retinoschisis in a patient with x-linked alport syndrome. Retin Cases Brief Rep 2012;6(1):4-6
26 Thomas AS, Baynham JT, Flaxel CJ.Macular holes, vitelliform lesions, and midperipheral retinoschisis in alport syndrome. Retin Cases Brief Rep 2016;10(2):109-111
27 Yasuzumi K, Futagami S, Mochizuki M. Bilateral Serous Retinal Detachment Associated with Alport's Syndrome. Ophthalmologica 2000;214(4):301-304
28 Marmor MF. New hypotheses on the pathogenesis and treatment of serous retinal detachment. Graefes Arch Clin Exp Ophthalmol 1988;226(6):548-552
29 Noble KG, Margolis S, Carr RE. The Golden Tapetal Sheen Reflex in Retinal Disease. Am J Ophthalmol 1989;107(3):211-217
30 Berendschot TT,DeLint PJ, van Norren D. Origin of tapetallike reflexes in carriers of X-liked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996;37(13):2716-2723
31 Guadalupe CC, Graciana FP, Itamar Y, et al. Tapetal-like sheen associated with fleck retinopathy in Alport syndrome. Retina 2003;23(2):245-247
32 Colville D, Wang YY, Tan R, et al. The retinal “lozenge” or “dull macular reflex” in Alportsyndrome may be associated with a severe retinopathy and early-onset renal failure. Br J Ophthalmol 2009;93(3):383-386
33 Kashtan CE. Alport syndrome.An inherited disorder of renal,ocular, and cochlear basement membranes. Medicine (Baltimore)1999;78(5):338-360
34 Set?l? K, Ruusuvaara P.Alport syndrome with hereditary macular degeneration. Acta Ophthalmol(Copenh) 1989;67(4):409-414
35 Savige J,Wang Y,Crawford A, et al. Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome. Ophthalmic Genet 2017;38(3):238-244
36 Grupcheva CN, Chew GS, Edwards M, et al.Imaging posterior polymorphous corneal dystrophy by in vivo confocal microscopy. Clin Exp Ophthalmol 2001;29(4):256-259
37 Teekhasaenee C, Nimmanit S, Wutthiphan S,et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991;98(8):1207-1215
38 Sabates R, Krachmer JH, Weingeist TA. Ocular findings in Alport's syndrome. Ophthalmologica 1983;186(4):204-210
39 Sekundo W, Lee WR, Kirkness CM,et al. An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. Ophthalmology 1994;101(8):1422-1431
40 Laganowski HC, Sherrard ES, Muir MG. The posterior corneal surface in posterior polymorphous dystrophy: A specular microscopical study. Cornea 1991;10(3):224-232
41 Rodrigues MM, Sun TT, Krachmer J, et al. Epithelialization of the cornea lendothelium in posterior polymorphous dystrophy. Invest Ophthalmol Vis Sci 1980;19(7):832-835
42 Kraig S. Bower, MD, Jayson D. et al. Novel Corneal Phenotype in a Patient with Alport Syndrome. Cornea 2009;28(5):599-606
43 Rhys C, Snyers B, Pirson Y. Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. Kidney Int 1997;52(1):208-211
44 Ramamurthi S, Rahman MQ, Dutton GN, et al. Pathogenesis, clinical features and management of recurrent corneal erosions. Eye (Lond) 2006;20(6):635-644
45 Funk SD, Bayer RH, Malone AF, et al. Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.J Am Soc Nephrol 2018;29(3):949-960
46 Wu Y,Chen Y,Chen D,et al. Presence of foam cells in kidney interstitiumis associated with progression of renal injury in patients with glomerular diseases. Nephron Clin Pract 2009;113(3):155-161
47娄楚媛. col4a3 基因敲除对视网膜的影响. 中国医科大学 2018