Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.

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Title: Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.
Authors: Kato H; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Yokoyama T; Faculty of Medical Technology, Department of Clinical Engineering and Medical Technology, Niigata University of Health and Welfare, Niigata, Japan., Manabe S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan. shmanabe1982@gmail.com.; Department of Nephrology, Tokyo Rosai Hospital, Tokyo, Japan. shmanabe1982@gmail.com., Seki M; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Ushio Y; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Makabe S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Kobayashi S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Kataoka H; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Nitta K; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Hoshino J; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.
Source: BMC nephrology [BMC Nephrol] 2026 Mar 17; Vol. 27 (1). Date of Electronic Publication: 2026 Mar 17.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1471-2369
DOI:10.1186/s12882-026-04899-w