PMC9669371_01
Representative images of light microscopy and transmission electron microscopy (temtem) from the kidney biopsy of the patient. (A) Hematoxylin and eosin staining showed no significant changes in glomeruli, renal interstitium, and renal tubules (scale bar: 100 mum). (B) Representative TEM showed the diffuse foot process effacement of podocytes, and no electron-dense deposition in the subepithelial, subendothelial, and mesangial compartments was detected (scale bar: 1 mum).
fmed-09-1059740-g001.jpg
PMC9669371_01_fmed-09-1059740-g001.jpg
F1
A renal biopsy was performed to pathologically analyze the cause of the nephrotic syndrome which showed the MCD (Figure 1).
The heterozygosity for the 4-base deletion mutation [codons 41/42 (-ttct) bETa0] of the beta-globin gene (hbb) was determined by high-throughput gene sequencing. (A) Normal control reference sequence. (B) Patient. The arrows indicated the site of the deletion mutation of the beta-globin gene.
fmed-09-1059740-g002.jpg
PMC9669371_01_fmed-09-1059740-g002.jpg
F2
Analysis results revealed heterozygosity for Codons 41/42 (-TTCT) BETA0 of the beta-globin gene (Figure 2).
Quantification in levels of plasma albumin (alb) and 24-h urinary protein excretion (24hUP) of this patient during the observational period. 0.2, 0.5, 0.6, and 1.0 denote the dose of rituximab used at this timepoint (g, gram).
fmed-09-1059740-g003.jpg
PMC9669371_01_fmed-09-1059740-g003.jpg
F3
Partial remission of the nephrotic syndrome was reached with a trough level of FK506 of 2.7-6.9 ng/ml and a cumulative dose of 5.8 g for cyclophosphamide (Figure 3). During the 36-month follow-up observational period, clinical complete remission of refractory MCD and normal blood HGB levels remained stable (Figures 3, 4).
Changes in blood hemoglobin (hgb) levels and CD19+B lymphocyte counts of this patient during the observational period. 0.2, 0.5, 0.6, and 1.0 denote the dose of rituximab used at this timepoint g, gram.
fmed-09-1059740-g004.jpg
PMC9669371_01_fmed-09-1059740-g004.jpg
F4
During the 36-month follow-up observational period, clinical complete remission of refractory MCD and normal blood HGB levels remained stable (Figures 3, 4).