PMC8905345_01
Antenatal ultrasound at 30 weeks of gestation.
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F1
Antenatal ultrasound at 30 weeks of gestation shows isolated hyperechoic colonic content, highly suggesting cystinuria (Figure 1).
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.
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F2
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.