Detection of mulberry bodies using molecular imaging flow cytometry

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Fabry disease is a hereditary disorder caused by deficient alpha-galactosidase A activity, leading to glycolipid accumulation and organ dysfunction.
• Urinary mulberry bodies (MBs) are key diagnostic markers for Fabry disease, but their low abundance and morphological similarity to other urinary elements complicate traditional microscopic identification.
• There is a need for a more accurate and objective method for detecting MBs in urinary sediments.

Purpose of the Study:

• To evaluate the efficacy of molecular imaging flow cytometry (MI-FCM) for the detection of urinary mulberry bodies (MBs).
• To compare the diagnostic accuracy of MI-FCM with traditional microscopy for identifying MBs in patients with Fabry disease.

Main Methods:

• Urine samples from Fabry disease patients and healthy controls were analyzed using MI-FCM.
• Microscopic visual evaluation of urinary sediments served as a control method for MB identification.

Main Results:

• MI-FCM demonstrated high sensitivity (91.7%) and specificity (100%) in detecting MBs in Fabry disease patients.
• MI-FCM identified MBs in 33 out of 36 Fabry patients, significantly outperforming microscopy (63.9% sensitivity).
• MBs were detected by MI-FCM even in patients with negative urinary protein, indicating potential for early detection.

Conclusions:

• MI-FCM is a highly sensitive and specific method for detecting mulberry bodies in patients with Fabry disease.
• This technique can identify MBs in the early stages of Fabry disease, potentially before renal dysfunction is apparent.
• Screening for MBs using MI-FCM may facilitate the early diagnosis and management of Fabry disease.