Table 4:
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Detailed specific management for patients with PH1.

Children (N = 24)Adults (N = 16)Total (N = 40)
Age at initiation of treatment (years) [median (IQR)]2 (1–6)45 (28–57)7.5 (2–34)
Treatment (%)
 Crystallization inhibitor23 (96)13 (81)36 (90)
 RNA interference16 (67)7 (44)23 (58)
  Lumasiran15 (63)7 (44)22 (55)
  Nedosiran1 (4)0 (0)1 (3)
 Stiripentol4 (17)2 (13)6 (15)
Treatment by pyridoxine (%)23 (96)13 (81)36 (90)
 Patients with 2 pyridoxine-responsiveness mutationsa5 (21)5 (31)10 (25)
 Patients eventually responsive to pyridoxine3 (13)0 (0)3 (8)
Isolated kidney transplantation under RNA interference (%)2 (8)2 (13)4 (10)
Isolated kidney transplantation without RNA interference (%)0 (0)1 (6)1 (3)
Liver and kidney transplantation (%)1 (4)4 (25)5 (13)
Age at kidney transplantation (years) [median (IQR)]18 (3–19)b35 (27–45)27 (20–38)
Children (N = 24)Adults (N = 16)Total (N = 40)
Age at initiation of treatment (years) [median (IQR)]2 (1–6)45 (28–57)7.5 (2–34)
Treatment (%)
 Crystallization inhibitor23 (96)13 (81)36 (90)
 RNA interference16 (67)7 (44)23 (58)
  Lumasiran15 (63)7 (44)22 (55)
  Nedosiran1 (4)0 (0)1 (3)
 Stiripentol4 (17)2 (13)6 (15)
Treatment by pyridoxine (%)23 (96)13 (81)36 (90)
 Patients with 2 pyridoxine-responsiveness mutationsa5 (21)5 (31)10 (25)
 Patients eventually responsive to pyridoxine3 (13)0 (0)3 (8)
Isolated kidney transplantation under RNA interference (%)2 (8)2 (13)4 (10)
Isolated kidney transplantation without RNA interference (%)0 (0)1 (6)1 (3)
Liver and kidney transplantation (%)1 (4)4 (25)5 (13)
Age at kidney transplantation (years) [median (IQR)]18 (3–19)b35 (27–45)27 (20–38)

Values are medians (IQR) or numbers (percentages). No missing data.

a

Considered pyridoxine-responsiveness mutations were c.508G>A (p.Gly170Arg) and c.454T>A (p.Phe152Ile).

b

Figure in brackets indicate minimum and maximum because there are only three patients in this group.

Table 4:
Open in new tab

Detailed specific management for patients with PH1.

Children (N = 24)Adults (N = 16)Total (N = 40)
Age at initiation of treatment (years) [median (IQR)]2 (1–6)45 (28–57)7.5 (2–34)
Treatment (%)
 Crystallization inhibitor23 (96)13 (81)36 (90)
 RNA interference16 (67)7 (44)23 (58)
  Lumasiran15 (63)7 (44)22 (55)
  Nedosiran1 (4)0 (0)1 (3)
 Stiripentol4 (17)2 (13)6 (15)
Treatment by pyridoxine (%)23 (96)13 (81)36 (90)
 Patients with 2 pyridoxine-responsiveness mutationsa5 (21)5 (31)10 (25)
 Patients eventually responsive to pyridoxine3 (13)0 (0)3 (8)
Isolated kidney transplantation under RNA interference (%)2 (8)2 (13)4 (10)
Isolated kidney transplantation without RNA interference (%)0 (0)1 (6)1 (3)
Liver and kidney transplantation (%)1 (4)4 (25)5 (13)
Age at kidney transplantation (years) [median (IQR)]18 (3–19)b35 (27–45)27 (20–38)
Children (N = 24)Adults (N = 16)Total (N = 40)
Age at initiation of treatment (years) [median (IQR)]2 (1–6)45 (28–57)7.5 (2–34)
Treatment (%)
 Crystallization inhibitor23 (96)13 (81)36 (90)
 RNA interference16 (67)7 (44)23 (58)
  Lumasiran15 (63)7 (44)22 (55)
  Nedosiran1 (4)0 (0)1 (3)
 Stiripentol4 (17)2 (13)6 (15)
Treatment by pyridoxine (%)23 (96)13 (81)36 (90)
 Patients with 2 pyridoxine-responsiveness mutationsa5 (21)5 (31)10 (25)
 Patients eventually responsive to pyridoxine3 (13)0 (0)3 (8)
Isolated kidney transplantation under RNA interference (%)2 (8)2 (13)4 (10)
Isolated kidney transplantation without RNA interference (%)0 (0)1 (6)1 (3)
Liver and kidney transplantation (%)1 (4)4 (25)5 (13)
Age at kidney transplantation (years) [median (IQR)]18 (3–19)b35 (27–45)27 (20–38)

Values are medians (IQR) or numbers (percentages). No missing data.

a

Considered pyridoxine-responsiveness mutations were c.508G>A (p.Gly170Arg) and c.454T>A (p.Phe152Ile).

b

Figure in brackets indicate minimum and maximum because there are only three patients in this group.

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