PMC10300636_01
The patient's renal biopsy. (A) Renal pathology under light microscopy with periodic acid-Schiff stain (x400). Foamy cytoplasm is seen in the capillary lumen of the glomeruli. (B) Electron microgram showing laminated lipid droplets and diffuse foot process effacement in the glomerular epithelium.
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F1
Foamy cytoplasms were found in the capillary lumen of the glomeruli under the light microscopy (Figures 1A). Electron microscopic images identified laminated lipid droplets and diffuse foot process effacement in the glomerular epithelium, features consistent with FD (Figures 1B).
The patient's family pedigree. The genetic analysis showed that the proband (7, denoted with an arrow) has the c.656T>C mutation in GLA gene exon 5, which is likely pathogenic for Fabry disease. After his diagnosis, his mother (2), older brother (4), older sisters (3, 6), monozygotic twin brother (9), daughter (14), and older sister's son (11) underwent genetic analyses. His older sister's daughter (12) declined to undergo the genetic analysis. The same mutation was found in his monozygotic twin brother (9), one of his older sisters (6), his daughter (14) and his mother (2). The age of some relatives is as follows: Proband (7) and his monozygotic twin brother (9) 52 years, sister (6) 54 years, brother (4) 56 years, father (1) 82 years and mother (2) 81 years.
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F2
The patient's family members were tested for FD, which confirmed that his mother, older sister, twin brother, and daughter harbored the same GLA mutation (Figure 2).