PMC9354574_01
PMC9354574_02
(A,B) Light microscopy evaluation of renal biopsy using HE and PASM staining. A. HE staining implied that some lumen occlusion and intima edema was in partial afferent arteriole (Red arrowhead). (B) PASM staining showed endotheliocytes were swollen and proliferative, partial capillary loops were compressed and narrowed (Red arrowhead), GBM were incrassated and degenerated, with lamina rata internal expansion and formation of double contours (Green arrowhead). (A) (HE, x200), (B) (PASM, x400).
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F1
Light microscopy showed proliferated and swelled endothelial cells, some capillary loops were compressed and narrowed, the lumen of some of the afferent arterioles was occluded, and the intima was edematous, which were consistent with thrombotic microangiopathy (Figures 1A,B). She was lively and talkative, with normal blood pressure, negative urine protein (Figure 3 and Table 1).
(A-D) The variants in the MMACHC gene of the patient and her family. HGB, hemoglobin; SCr, serum creatinine; SHcy, serum homocysteine. (A) The patient had compound heterozygous variants in the MMACHC gene. (B) The father of the child had a heterozygous variant at c.609G > A of the MMACHC gene, and c.80A site is normal. (C) The mother of the child had a heterozygous variant at c.80A > G of the MMACHC gene, and c.609G site is normal. (D) There was no variant in the MMACHC gene of the sister of the child.
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F2
A (W203X) were derived from the father and mother, respectively (Figures 2A-D). According to the American College of Medical Genetics (ACMG) guideline, they all were pathogenic variants.
The changes of hemoglobin, serum creatinine, and serum homocysteine.
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F3
She was lively and talkative, with normal blood pressure, negative urine protein (Figure 3 and Table 1).