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Table 1 Clinical data of patient

From: CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

Clinical features Results
Age 1 y 1 y 9 mo 2 y 10 mo 3 y 11 mo
Weight, kg (‰) 6 (< 3) 7 (< 3) 11.4 (3) 13 (10)
Height, сm (‰) 68 (< 3) 74 (< 3) 84 (3) 91 (3)
Urine output, l/m2 (N < 2.0) 7.3 8.2 4.8 4.5
Serum
pH (N 7.35–7.45) 7.3 7.35 7.44 7.41
HCO3, mmol/l (N 22–26) 15.1 21.2 26 25
Sodium, mmol/l (N 135–147) 131 135 133 139
Potassium, mmol/l (N 3.7–5.1) 2.4 3.5 3.6 2.9
Chloride, mmol/l (N 97–115) 81 99 100 98
Phosphorus, mmol/l (N 1.3–2.2) 0.53 1.24 1.3 1.11
Alkaline phosphatase, IU/l (N < 644) 903 711 390 1097
Thyroid-stimulating hormone, mIU/ml (N 0.34–5.6) 5.8 5.4 5.2 4.7
WBC cystine, nmol half-cystine/mg protein (N < 1.0)   3.5 1.67 0.08
eGFR, ml/min/1.73 m2 77.5 54 69.7 69.2
24-h urine analysis
Calcium/creatinine ratio, mmol/mmol (N < 1.5) 0.9 2.2 3.3 2.5
TmP/GFR, mmol/mmol
(N 1.15–2.44)
0.3 0.4 0.9 0.8
Tubular urate excretion, % (N < 10%) 30 52 59 39
Tubular potassium excretion, % (N < 10%) 20 67 38 45
Tubular sodium excretion, % (N < 1%) 1.4 1.2 1.4 1.1