Table 1 Clinical, biochemical and genetic characteristics of FBS at presentation
From: Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
PATIENTS | 1 | 2 | 3 | 4 | 5 | 6 | 7ia | 7iia | 8 | 9 | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|
Birth weight (Kg) | 2.3 | 2.1 | NA | NA | 2.2 | NA | 3.3 | 2.3 | NA | 2 | 2.2 |
Age at first symptoms b | 5 | 1 | 2 | 2 | 4 | 2 | 2 | 2 | 5 | 7 | 2 |
Age at presentation b | 10 | 16 | 2c | 4c | 11 | 10 | 36 | 2 | 6c | 7 | 9 |
Sex | F | F | M | M | F | M | M | F | M | M | F |
Consanguinity | Yes | Yes | Yes | Yes | No | Yes | No | No | Yes | Yes | Yes |
Hepatomegaly | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Polyuria | Yes | Yes | Yes | Yes | Yes | No | Yes | No | Yes | Yes | Yes |
Features of rickets | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Weight (kg) | 5.3 | 4 | 4 | 3 | 4.2 | 4.5 | 8.4 | 3.7 | 3.5 | 4.5 | 4.7 |
Weight (SD) | -4.0 | -8.2 | -2.6 | -7.0 | -6.4 | -6.3 | -4.5 | -2.5 | -7.1 | -5.4 | -4.8 |
Height (cm) | 63 | 58 | 55.5 | NA | NA | 57 | 72 | 48 | 54 | NA | 60 |
Height (SD) | -3.0 | -9.5 | -1.6 | NA | NA | -7.1 | -6.5 | -4.6 | -6.4 | NA | -4.2 |
Glycosuria | ++ | NA | NA | +++ | +++ | NA | ++ | ++++ | ++ | ++ | ++ |
Proteinuria | NA | NA | NA | + | NA | NA | NA | NA | + | + | + |
FBS (mg/dl) | 43 | 45 | NA | 46 | 60 | 92 | 37 | 84 | 29 | NA | 38 |
2 hr PPG (mg/dl) | 309 | 212 | 230 | 448 | 302 | NA | 205 | 103 | 213 | 182 | 273 |
S. Ca (mg/dl) | 9.3 | 10.4 | 10.1 | 12.9 | 9 | 9.2 | 10 | 8.4 | 7.9 | 8.8 | 9.2 |
S.Po4 (mg/dl) | 1.5 | 2.3 | 2 | 2.7 | 2.3 | 2.4 | 2.8 | 2.8 | 1.9 | 2.9 | 1.8 |
S. ALP (IU/L) | 1297 | 1410 | 2510 | 1857 | 1380 | 498 | 752 | 1371 | 1979 | NA | NA |
Acid base disturbance | MA | MA | MA | MA | MA | MA | MA | MA | CMA | MA | CMA |
Liver Biopsy (+ VE for Glycogen) | NA | +VE | ND | +VE | NA | +VE | +VE | +VE | ND | ND | ND |
Homozygous SLC2A2 pathogenic variant | c.157C > T, p.(Arg53Te) | ND | c.157C > T, p.(Arg53Ter) | c.157C > T, p.(Arg53Ter) | c.735C > A, p.(Tyr245Ter) | c.320G > A, p.(Gly107Asp)d | c.1171-2A > G, p.? | c.1171-2A > G, p.? | c.157C > T, p.(Arg53Ter) | c.157C > T, p.(Arg53Ter) | c.157C > T, p.(Arg53Ter) |