Fabry's disease discovered with chance urinary mulberry cells: a case report

CEN Case Reports
Takashi NakamichiSadayoshi Ito

Abstract

Fabry's disease (FD) is a rare X-linked lysosomal storage disorder. Novel enzyme replacement therapy (ERT) at an early stage can slow the progression of cardiovascular and renal dysfunction. Urinary mulberry cells are occasionally found in renal FD. We report a case of variant FD in which detection of urinary mulberry cells led to an early diagnosis. A 36-year-old Japanese man was referred to our hospital because mulberry cells had been detected during urinalysis. Proteinuria and renal dysfunction were not observed. His plasma alpha-galactosidase activity was very low. Renal biopsy revealed typical foamy changes in the glomerular podocytes and tubular epithelial cells that are found in renal FD. Based on the detection of urinary mulberry cells, we successfully started ERT before the patient's renal function deteriorated. Clinical nephrologists and laboratory technicians should recognize the importance of screening for mulberry cells during urinalysis as this is a simple, inexpensive, and non-invasive method for diagnosing FD.

References

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Citations

Jun 28, 2019·Internal Medicine·Yuji KatoTasuku Nagasawa
Dec 3, 2016·Internal Medicine·Homare ShimohataMasaki Kobayashi
Jun 9, 2017·CEN Case Reports·Homare ShimohataMasaki Kobayashi
Jul 10, 2018·Internal Medicine·Rina OnishiYoshihiko Saito
Dec 29, 2020·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Hiroaki YonishiYoshitaka Isaka
May 1, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Roberto ChimenzAntonio Lacquaniti
Jul 6, 2021·Clinical Chemistry and Laboratory Medicine : CCLM·Giovanni B FogazziPiergiorgio Messa

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