Tohoku J. Exp. Med., 2023 September, 261(1)
X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report
Takuya Okamoto,1 Hisato Shima,2 Toshio Doi,2 Kandai Nozu,3 Tomoko Inoue,2 Manabu Tashiro,2 Seiichiro Wariishi,4 Hiroyasu Bando,5 Hiroyuki Azuma,6 Naohito Iwasaka,2
1Department of Laboratory, Kawashima Hospital, Tokushima, Tokushima, Japan
2Department of Kidney Disease, Kawashima Hospital, Tokushima, Tokushima, Japan
3Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan
4Department of Cardiovascular Surgery, Kawashima Hospital, Tokushima, Tokushima, Japan
5Department of Respiratory Medicine, Kawashima Hospital, Tokushima, Tokushima, Japan
6Department of Internal Medicine, Kawashima Hospital, Tokushima, Tokushima, Japan
7Kawashima Dialysis Clinic, Tokushima, Tokushima, Japan
8Anan Kawashima Clinic, Anan, Tokushima, Japan
X-linked Alport syndrome is a hereditary progressive renal disease resulting from the disruption of collagen α3α4α5 (IV) heterotrimerization caused by pathogenic variants in the A, p. G1030S). The possibility of X-linked Alport syndrome should be considered when negative expression of α5 (IV) staining on Bowman's capsule was observed.
Key words —— Bowmans's capsules; distal tubular basement membrane; glomerular basement membrane; type IV collagen α5; X-linked Alport syndrome
© 2023 Tohoku University Medical Press
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Tohoku J. Exp. Med., 2023 September, 261(1), 69-73.
*These two authors contributed equally to this work.
Correspondence: Hisato Shima, M.D., Ph.D., Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-cho, Tokushima, Tokushima 770-0011, Japan.
e-mail: h.shima@khg.or.jp