Research Article

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 hPlasma oxalate, mol/LAGXT mutationAGT activity, mol/h/mg protein

Ia*2.44065
Ibc.33-34insC4.7
Ic*0.228
IIa*1.30941C.33-34insC2.8
IIb
IIc*0.33127.7C.33-34insC
IId*0.22458
IIIa0.164202
IIIb0.0521092.4
IIIc*1.567C.33-34insC
IIId0.07627.0C.33-34insC
IVa*0.889404.7
IVb*0.526c.346 G>A
IVc*1.538c.346 G>A
IVd*0.165
IVe0.021127.0
IVf*0.479
IVg0.072

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.