PMC10098006_01
Renal biopsy in a patient with this boy. Photomicrograph of renal biopsy specimen with HE, PAS (A,B) stain showed the glomeruli are small and underdeveloped and one juxtaglomerular complex was enlarged and MASSON, PASM (C,D) stain showed glomerular basement membrane.
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F2
At that time, his serum potassium was 3.28 mmol/l, pH 7.501, and he had a kidney biopsy (Figure 2).
PMC10098006_02
The sanger sequencing map of this patient's family. The patient's homozygous variation CLCNKB gene, which was c.1792C > T (p. Q598*) (A) and the sanger results of his parents (B,C).
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F3
Q598*) (Figure 3).