Figures & data
Figure 1. The family pedigree. ESRD, end-stage renal disease.
Figure 2. Renal biopsy findings. (A) Hematoxylin and eosin (H&E) staining. Podocytes of the glomeruli display a foamy appearance and an expanded cytoplasm (×400). (B) H&E staining. Foamy tubular epithelial cells are shown (×400). (C) Toluidine blue staining. A semi-thin section stained with toluidine blue for electron microscopy shows inclusions within the cytoplasm of the podocytes (×200). (D) Electron microscopy. Diffuse, whorled myelin figures in the cytoplasm of the podocytes are shown (×3000).
Figure 3. Nucleotide sequencing of the GLA gene by using genomic DNA. (A) Control. (B) Patient DNA sequence reveals a homozygous small insertion mutation, that is, c.1030_1031insT (p.Leu344fsX31). (C) Patient’s mother DNA sequence shows that the mother is a heterozygous carrier for c.1030_1031insT (p.Leu344fsX31).
