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

5 hours ago

Fabry disease (FD) is an X-linked lysosomal storage disorder requiring early diagnosis to prevent irreversible organ damage.
Diagnosis is often delayed due to heterogeneous clinical presentations, especially in heterozygous females and asymptomatic patients.
Urinary mulberry cells and bodies are pathognomonic markers of FD, reflecting Gb3 accumulation in podocytes.
Automated urine sediment analyzers and routine manual microscopy often miss these subtle morphological features.
A case study of a three-generation Japanese family highlights the importance of targeted manual urine sediment examination for FD diagnosis.
Clinical awareness and close clinician-laboratory communication are crucial for identifying FD markers missed by automated systems.
Urinary mulberry cell counts correlated with disease severity and decreased post enzyme replacement therapy.
The study underscores the limitations of laboratory automation in detecting Fabry nephropathy.

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