PMC9051362_01
PMC9051362_02
Renal ultrasound image.
fped-10-860990-g0001.jpg
PMC9051362_02_fped-10-860990-g0001.jpg
F1
Renal ultrasound image (Figure 1) showed slightly enhanced parenchymal echo in both kidneys.
CTNS mutation Sanger analysis results for the patient involved in this study. Polymerase chain reaction (PCR) and Sanger was performed in our test.
fped-10-860990-g0002.jpg
PMC9051362_02_fped-10-860990-g0002.jpg
F2
Gene analysis showed that there was a homozygous pathogenic variant c.140 <= 5G > A (p.?) in the patient's CTNS gene (Figure 2).