A 73-year-old man presented with dyspnea on exertion. Physical examination showed
mild peripheral edema without chest murmur or crackles. An electrocardiogram showed
sinus rhythm with complete right bundle branch block. Moreover, transthoracic echocardiography
demonstrated remarkable left ventricular hypertrophy with preserved ejection fraction.
Laboratory findings revealed elevation of serum creatinine, troponin I and brain natriuretic
peptide. Of note, regular urinalysis tests showed proteinuria and “mulberry body”
consisting of fat with a whorl-like appearance in the urinary sediment (Figure 1). Further investigations revealed decreased level of the alpha-galactosidase activity
and identification of IVS4+919G>A mutation, which confirmed the definitive diagnosis
of Fabry disease. After initiation of diuretics and enzyme replacement therapy with
agalsidase alpha, his dyspnea resolved. At follow-up 4 years after presentation, he
was doing well and had no further cardiac symptoms.
Figure 1: Mulberry body consisting of fat with a whorl-like appearance in the urinary sediment
(arrow).
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References
- Fabry disease.Orphanet J Rare Dis. 2010; 5: 30
- A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.Intern Med. 2016; 55 (3475-2478)
- Newborn screening for Fabry disease in the western region of Japan.Mol Genet Metab Rep. 2020; 22100562
- Fabry's disease.Lancet. 2008; 372: 1427-1435
- Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.Nephrol Dial Transplant. 2011; 26: 3195-3202
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