From: Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Sample
Age (years)
Stone locations
BUN (mmol/L)
Cre (μmol/L)
UA (μmol/L)
WCZ
12
Left kidney
7.81
80
512
13C
12.3 ± 4.9
76.9% in kidneys
4.5 ± 1.2
66.0 ± 26.9
348.6 ± 89.6