Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome
Table 3
24-hour urinary oxalate, plasma oxalate, AGXT mutations and AGT activity.
Patient number
Urinary oxalate, mmol/24 h
Plasma oxalate, mol/L
AGXT mutation
AGT activity, mol/h/mg protein
Ia*
2.440
65
—
—
Ib
—
—
c.33-34insC
4.7
Ic*
0.228
—
—
—
IIa*
1.309
41
C.33-34insC
2.8
IIb
—
—
—
—
IIc*
0.331
27.7
C.33-34insC
—
IId*
0.224
58
—
—
IIIa
0.164
202
—
—
IIIb
0.052
109
—
2.4
IIIc*
1.567
—
C.33-34insC
—
IIId
0.076
27.0
C.33-34insC
—
IVa*
0.889
40
—
4.7
IVb*
0.526
—
c.346 G>A
—
IVc*
1.538
—
c.346 G>A
—
IVd*
0.165
—
—
—
IVe
0.021
127.0
—
—
IVf*
0.479
—
—
—
IVg
0.072
—
—
—
Family number 1 (I), family number 2 (II), family number 3 (III), and familynumber 4 (IV). *24-hour oxalate >0.5 mmol/1.73 m2. Lab reference range for plasma oxalate <33 μmol/L. AGT activity reference range (19.1–47.9 μmol/h/mg); —: not done.