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

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.