What question did this study set out to answer?

To demonstrate the importance of clinical awareness in diagnosing Fabry nephropathy using targeted manual urine microscopy.

March 21, 2026Open Access

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

HKHaruka KatoToho University TYTakashi YokoyamaNiigata University of Health and Welfare SMShun ManabeTokyo Women's Medical University

Key Points

To demonstrate the importance of clinical awareness in diagnosing Fabry nephropathy using targeted manual urine microscopy.
Presented a family case illustrating missed diagnoses by routine urinalysis.
Emphasized the need for targeted manual urine sediment examination.
Highlighted the role of close communication between clinicians and laboratory technologists.
Identified mulberry cells and bodies as diagnostic clues in urine samples.
Showed that routine automated systems overlooked these subtle signs.
Demonstrated earlier diagnosis led to timely therapeutic interventions.

Abstract

This family illustrates that laboratory automation and routine non-targeted microscopy may have limitations in detecting Fabry nephropathy. Clinical awareness-the conscious suspicion of FD-serves as the decisive trigger for performing targeted manual urine sediment examination. Close communication between clinicians and laboratory technologists may be beneficial for identifying subtle diagnostic clues like mulberry cells and bodies that automated systems might overlook, ensuring early diagnosis and timely therapeutic intervention.

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