case_images: PMC8905345_01
case_images: Antenatal ultrasound at 30 weeks of gestation.
case_images: fped-09-822114-g0001.jpg
case_images: PMC8905345_01_fped-09-822114-g0001.jpg
case_images: F1
case_images: Antenatal ultrasound at 30 weeks of gestation shows isolated hyperechoic colonic content, highly suggesting cystinuria (Figure 1).
case_images: Urine Aminogram of Day 3: The values of amino acid concentration in mmol/mol CrU are given as percentage of upper reference limit adapted to age.
case_images: fped-09-822114-g0002.jpg
case_images: PMC8905345_01_fped-09-822114-g0002.jpg
case_images: F2
case_images: A thorough renal laboratory investigation shows proximal renal tubulopathy with proteinuria/CrU 825 mg/mmol (N < 30), beta microglobulinuria >170,000 mug/L (N < 3), generalized amino aciduria (Figure 2), and glycosuria 14.8 mmol/L.