PMC7775732_01
(A) Changes in Hb levels after treatment. (B) Changes in SCr levels after treatment. TPE, therapeutic plasma exchange; CRRT, continuous renal replacement therapy; RBC, red blood cell; Hb, hemoglobin; SCr, serum creatinine.
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F1
Hemolysis still progressed, and renal function did not recover after treatment (Figure 1).
(A) Diagram of the patient's de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene; nucleotide 754 in the coding region was altered from guanine to adenine, resulting in a change of amino acid 252 from aspartic to asparagine. This missense variant has been reported to be pathogenic to Denys-Drash syndrome (DDS) according to the Human Gene Mutation Database, and it was evaluated to be pathogenic to DDS according to the American College of Medical Genetics and Genomics standards and guidelines. (B,C) Diagrams of WT1 genes of the patient's parents showing no variation. Since reverse reads were used by Sanger sequencing, the bases shown in the peak diagram are the reverse complementary sequence C>T of the altered bases.
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F2
Asp252Asn), and this was further verified by Sanger sequencing (Figure 2).