Skip to main content

Advertisement

Table 1 Biochemical findings of the two patients during the first and the last hospitalization

From: Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation

Laboratory test Patient 1 Patient 2 Normal values
Initial values age 17 months Last values age 6 year Initial values age 5 months Last values age 8 months
Serum Ca (mg/dl) 9.8 9.8 9.8 9.8 9–11
Serum PO4 2.3 mg/dl 3.8 mg/dl 1.3 mg/dl 1.7 mg/dl 1 month–2 year: 3.8–6.5 g/dl 3–9 year: 3.2–5.8 mg/dl
Serum alkaline phosphatase (U/l) 666 206 1200 1178 150–420
Parathyroid hormone (ng/l) 47 49 13 83 10–65
Vitamin D3 (pg/ml) 25    24  27  16–65 
Serum triglyceride (mg/dl) 761 187 1200 254 27–125
Serum cholesterol (mg/dl) 210 186 400 153 <170
Aspartate aminotransferase (U/l) 49 37 140 117 9–80
Alanine aminotransferase (U/l) 76 32 61 56 13–46
Random blood sugar (mg/dl) 120 135 102 88 <126
Serum uric acid (mg/dl) 1.5    1.5  1.1  2.2–6.6 
Venous pH 7.32 7.42 7.25 7.30 7.35–7.45
HCO3 (mEq/l) 17 22 13 14 18–24
TRP (%) 59 69 32 33 >85
Urine calcium excretion (mg/kg/day) 7.4  5.6  3.2    <4 
Glomerular filtration rate (ml/min/1.73 m2) 83  226  13  98  49–165 
Urine protein excretion (mg/m2/h) 64 18.8 42 44  <4
Urine glucose excretion (g/24 h)   25.7  1.8  4.5