PMC8814342_01
Histologic and immunohistochemical features of renal lesions. (A) Segmental mesangial expansion (hematoxylin and eosin; original magnification, x100). (B,D) Slight global glomerular basement membrane thickening (periodic acid-Schiff and Jones methenamine silver, respectively; original magnification, x200). (C) Scattered fuchsinophilic deposits (Masson's trichrome; original magnification, x200). Immunohistochemical assay (original magnification, x200) showed (E) mild staining for IgG and (F) fine granular deposits of c1q.
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F1
Mild mesangial expansion, glomerular basement membrane thickening, endothelial swelling, focally swollen podocytes, and hypercellularity were observed (Figure 1).
Changes in hematuria, proteinuria, and serum homocysteine during treatment. The X-axis indicates the time points of treatment and follow up, the left Y-axis represents the 24-h urine protein and hematuria, and the right Y-axis represents the serum homocysteine concentration. The green curve denotes the serum homocysteine concentration, the red curve represents hematuria (0.5 indicates + -, 1 indicates +, 2 indicates ++, and 3 indicates + + +), and the blue curve represents the 24-h urine protein. The left arrow indicates the time of initial OHCbl treatment, and the right arrow indicated the time of revised treatment.
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F2
The peak serum homocysteine concentration was 164 mumol/L (reference range, <15 mumol/L) (Figure 2), and the uric acid concentration was 625.7 mumol/L (reference range, 50-410 mumol/L). At the 36-month follow-up visit, the patient's serum homocysteine concentration was 9.57 mumol/L and her serum uric acid concentration was 330.91 mumol/L (Figure 2).
Family pedigree and identification of MMACHC mutation. (A) Shows the family pedigree. Squares indicate male family members, and circles represent female family members. The arrow indicates the proband. The symbol of both green and red in the circle represent heterozygote. NV, non-variant. (B) Shows the mutated locus of the DNA sequences. Phe, phenylalanine; Arg, arginine; Val, valine; Ile, isoleucine; Gln, glutamine; Unaffected, unaffected family members.
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F3
The family pedigree is shown in Figure 3A. The proband was a compound heterozygote for two transitions: one in exon 1 (chr1:45966084, c.80A>G) and the other in exon 4 (chr1:45974520, c.482G>A) of MMACHC (Figure 3B).