Abstract
Amaç: Alport sendromu hematüri,
ilerleyici böbrek yetmezliği, işitme kaybı ve oküler anormalliklerle seyreden
bir hastalıktır. Bu çalışmada merkezimizde Alport sendromu tanısıyla izlenen
hastaların demografik, klinik ve laboratuvar bulguları ile renal biyopsilerinin
histopatolojik ve elektron mikroskobik bulgularının değerlendirilmesi
amaçlanmıştır. Yöntem: Çocuk
Nefroloji Kliniğinde Haziran
2004 ile Ocak 2018 tarihleri arasında takip edilen 14 Alport sendromlu hastanın
başvuru şikayetleri, aile hikayesi, renal tutulumu, göz ve işitme bulguları,
böbrek biyopsilerinin histopatolojik ve elektron mikroskobik değerlendirmeleri
geriye dönük olarak incelendi. Bulgular: Yedisi kız ve yedisi erkek
olmak üzere toplam 14 hasta değerlendirildi. Hastaların yaşları 15 ay-17 yıl arasındaydı
(ortalama 10.7±3.8 yıl). On bir hasta hematüri, bir hasta vücutta şişlik, iki
hasta ise şikâyeti olmaksızın ailelerinde Alport sendromu öyküsü olması
nedeniyle araştırılmak üzere başvurdu. Anne-baba arasında akrabalık beş hastada
bulunurken, 11 hastanın ailesinde Alport sendromu öyküsü mevcuttu. Sensorinöral
işitme kaybı yedi hastada saptandı. Bilateral anterior lentikonus son dönem
böbrek yetmezliği kliniğinde başvuran bir hastada saptandı. Böbrek biyopsisi
yapılan 10 hastanın elektron mikroskobik incelenmesinde, tüm vakalarda glomerül
bazal membranında incelmeler, kalınlaşmalar ve sepet görünümü ile karakterize
düzensizlikler gösterildi. Sonuç: Hematüri şikayetiyle
başvuran hastalarda aile öyküsünün sorgulanması, göz muayenesi ve işitme
testlerinin yapılması Alport sendromu tanısını koymada yol gösterici
olmaktadır. Elektron mikroskobide glomerul bazal membrandaki tipik
değişikliklerin görülmesi tanıyı kesinleştirmektedir.
References
- 1-Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid : ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease. BMC Nephrology 2017; 18:105.2- Pavlína Plevová , Josef Gut, Jan Janda: Familial hematuria: A review. Medicina 2017; 53(1): 1-10.3- Taylor J, Flinter F. Familial haematuria: when to consider genetic testing. Arch Dis Child 2014;99(9):857–61.4- Kashtan CE. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 1999; 78:338.5- Frank T.L. Van Der Loop, Laurence Heıdet, Erıka D.J. Tımmer, Bıanca J.C. Van DenBosch, Anu Leınonen, Corınne Antıgnac, J. Ashley Jefferson, A. Peter Maxwell,Leo A.H. Monnens, Cornelıs H. Schro¨ Der, And Hubert J.M. Smeets. Autosomal Dominant Alport Syndrome Caused By A Col4a3 Splice Site Mutation. Kidney International, 2000;58:1870–1875.6. He X, Liu GL, Xia ZK, Ren XG, Gao YF, Fan ZM eta l. Clinical and pathological sudy of 47 cases with Alport syndrome. Honghua Er Ke Za Zhi. 2008;46(12):914-918.7. Sun L, Kuang X, Hao S, Wang P, Niu X, Zhu G et al. Features of clinical phenotype and genotype in Alport syndrome: a monocentric study. Zhonghua Er Ke Za Zhi. 2015; 53(2):114-118.8. Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 1997; 18(4):161-173. 9. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol. 2000;11:649–57.10. Kashtan CE, Kleppel MM, Gubler MC. Immunohistologic findings in Alport syndrome. Contrib Nephrol. 1996;117:142–53.
Abstract
References
- 1-Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid : ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease. BMC Nephrology 2017; 18:105.2- Pavlína Plevová , Josef Gut, Jan Janda: Familial hematuria: A review. Medicina 2017; 53(1): 1-10.3- Taylor J, Flinter F. Familial haematuria: when to consider genetic testing. Arch Dis Child 2014;99(9):857–61.4- Kashtan CE. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 1999; 78:338.5- Frank T.L. Van Der Loop, Laurence Heıdet, Erıka D.J. Tımmer, Bıanca J.C. Van DenBosch, Anu Leınonen, Corınne Antıgnac, J. Ashley Jefferson, A. Peter Maxwell,Leo A.H. Monnens, Cornelıs H. Schro¨ Der, And Hubert J.M. Smeets. Autosomal Dominant Alport Syndrome Caused By A Col4a3 Splice Site Mutation. Kidney International, 2000;58:1870–1875.6. He X, Liu GL, Xia ZK, Ren XG, Gao YF, Fan ZM eta l. Clinical and pathological sudy of 47 cases with Alport syndrome. Honghua Er Ke Za Zhi. 2008;46(12):914-918.7. Sun L, Kuang X, Hao S, Wang P, Niu X, Zhu G et al. Features of clinical phenotype and genotype in Alport syndrome: a monocentric study. Zhonghua Er Ke Za Zhi. 2015; 53(2):114-118.8. Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 1997; 18(4):161-173. 9. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol. 2000;11:649–57.10. Kashtan CE, Kleppel MM, Gubler MC. Immunohistologic findings in Alport syndrome. Contrib Nephrol. 1996;117:142–53.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Articles |
| Authors | |
| Publication Date | April 15, 2018 |
| Submission Date | February 12, 2018 |
| Acceptance Date | March 6, 2018 |
| Published in Issue | Year 2018 Volume: 11 Issue: 1 |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
Publishing in three issues per year (April - August - December), it is a multisectoral refereed scientific journal. In addition to research articles, scientific articles such as reviews, case reports and letters to the editor are published in the journal. Our journal, which has been published via e-mail since its inception, has been published both online and in print. Following the Participation Agreement signed with TÜBİTAK-ULAKBİM Dergi Park in April 2015, it has started to accept and evaluate online publications.
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