X-linked Alport Syndrome with Type IV Collagen <i>α</i>5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman’s Capsule and Distal Tubular Basement Membrane: A Case Report
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Published:2023
Issue:1
Volume:261
Page:69-73
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ISSN:0040-8727
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Container-title:The Tohoku Journal of Experimental Medicine
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language:en
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Short-container-title:Tohoku J. Exp. Med.
Author:
Okamoto Takuya1, Shima Hisato2, Doi Toshio2, Nozu Kandai3, Inoue Tomoko2, Tashiro Manabu2, Wariishi Seiichiro4, Bando Hiroyasu5, Azuma Hiroyuki6, Iwasaka Naohito7, Ohara Takuji8, Okada Kazuyoshi2, Minakuchi Jun2
Affiliation:
1. Department of Laboratory, Kawashima Hospital 2. Department of Kidney Disease, Kawashima Hospital 3. Department of Pediatrics, Kobe University Graduate School of Medicine 4. Department of Cardiovascular Surgery, Kawashima Hospital 5. Department of Respiratory Medicine, Kawashima Hospital 6. Department of Internal Medicine, Kawashima Hospital 7. Kawashima Dialysis Clinic 8. Anan Kawashima Clinic
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference14 articles.
1. Bu, L., Chen, J., Nelson, A.C., Katz, A., Kashtan, C.E., Kim, Y. & Pierpont, M.E. (2019) Somatic mosaicism in a male patient with X-linked Alport syndrome. Kidney Int. Rep., 4, 1031-1035. 2. Demosthenous, P., Voskarides, K., Stylianou, K., Hadjigavriel, M., Arsali, M., Patsias, C., Georgaki, E., Zirogiannis, P., Stavrou, C., Daphnis, E., Pierides, A. & Deltas, C.; Hellenic Nephrogenetics Research Consortium (2012) X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Clin. Genet., 81, 240-248. 3. Hashimura, Y., Nozu, K., Kaito, H., Nakanishi, K., Fu, X.J., Ohtsubo, H., Hashimoto, F., Oka, M., Ninchoji, T., Ishimori, S., Morisada, N., Matsunoshita, N., Kamiyoshi, N., Yoshikawa, N. & Iijima, K. (2014) Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. Kidney Int., 85, 1208-1213. 4. Hudson, B.G. (2004) The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J. Am. Soc. Nephrol., 15, 2514-2527. 5. International Alport Mutation Consoritium, Savige, J., Ars, E., Cotton, R.G., Crockett, D., Dagher, H., Deltas, C., Ding, J., Flinter, F., Pont-Kingdon, G., Smaoui, N., Torra, R. & Storey, H. (2014) DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr. Nephrol., 29, 971-977.
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