Table 1 Clinical data of all patients examined.

From: Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I

Pat. No

Fam. No

Sex

AGXT Genotype

HGVS

nucleotide (c)

protein (p)

Type of

AGXT

mutation

1st Symptom (years)

Diagnosis (years)

ESKF (years)

Dialysis time (months) and mode

VB6 prior ESKF

Age at LTx

Pox before and promptly after study related Tx (µmol/l)

Transplantation type and year

Outcome

1

F1

m

c.409C > T;

c.508G > A

p.Gln137*

p.Gly170Arg #

Nonsense

Missense

0.1

0.2

0.2

15 PD/HD

No

11 mo

174.7 / 24.26

LTx related 2007

Death at 2.3 years, septicemia

2

F2

f

c.1079G > A;

c.1079G > A

p.Arg360Gln

p.Arg360Gln

Missense

Missense

0.1

0.4

0.2

17 PD/HD

No

1 y

5 mo

136.4 / 15.81

LKTx and re LKTx in 06/2011

3.LKTx in 11/2018

SOF, eGFR 95 ml/min

3

F3

m

c.331C > T;

c.454 T > A

p.Arg111*

p.Phe152Ile #

Nonsense

Missense

0.5

0.5

0.5

12 PD/HD

No

1 y

6 mo

143.9 / 33.43

LKTx related 08/2008, 2nd KTx in 2021

HD from 01/20–03/21; now SOF, eGFR 77 ml/min

4

F4

m

c.508G > A;

c.33dupC

p.Gly170Arg #

p.(Lys12Glnfs*156)

Missense

Frameshift

0.3

0.3

0.3

15 PD/HD

No

1 y

6 mo

116.25 / 23.33

LKTx 2007

SOF, eGFR 26.3 ml/min

5

F5

m

c.533G > A;

c,533G > A

p.Cys178Tyr

p.Cys178Tyr

Missense

Missense

2.5

5.8

2.5

62 PD/HD

No

5 y

2 mo

n.a./n.a

iKTx 05/2001, LKTx 09/2003

SOF, eGFR 60 ml/min at 27 years

6

F6

m

deletion of exons 6–8

deletion of exons 6–8

p.Ile200Alafs*29

p.Ile200Alafs*29

Large deletion

Large deletion

1.1

8.3

6.8

28 HD

No

9 y

2 mo

n.a./15.78

iKTx 04/2008, LKTx 05/2009

KTx lost at age 18 years, since on HD, stable LTx function at 23 years

7

F7

f

c.508G > A:

c.508G > A

p.Gly170Arg #

pGly170Arg #

Missense

Missense

2

4.7

5.4

72 PD/HD

No

11 y

4 mo

114.7 /n.a

Attempted LKTx 05/2009

Death at 11.4 years

8

F6

f

deletion of exons 6–8

deletion of exons 6–8

p.Ile200Alafs*29

p.Ile200Alafs*29

Large deletion

Large deletion

11.6

13.5

14.5

6 HD

Yes

14 y

11 mo

n.a./n.a

LKTx 07/2008

SOF, eGFR 92 ml/min at 29 years

9

F8

m

c.508G > A;

c.508G > A

p.Gly170Arg #

pGly170Arg #

Missense

Missense

2

17

14

156 HD

No

17 y

n.a./n.a

iKTx 2000§, LKTx 2003§, iKTx 2005§

KTx lost at 22 years, sudden death after 6 months on HD due to cardiac arrest, with stable LTx function

10

F9

f

c.33delC;

c,33delC

p.Lys12Argfs*34

p.Lys12Argfs*34

Frameshift

Frameshift

5

13

10

108 HD

No

19 y

n.a./n.a

iKTx 1996, LKTx 2002

Sudden death at 33 years due to cardiac arrest with SOF, eGFR 47 ml/min

11

F10

f

c.508G > A

c.508G > A

p.Gly170Arg #

pGly170Arg #

Missense

Missense

0.3

28

28

42 HD

No

31 y

17 mo

80.8 / n.a

None

Death 31.6 years

12

F11

f

c.508G > A

c.508G > A

p.Gly170Arg #

pGly170Arg #

Missense

Missense

6

43

40.5

20 HD

No

42 y

27.98 / 8.74

LKTx 2006

Death in 2011 due to septicemia

13

F12

f

c.508G > A;

c.1084G > A

p.Gly170Arg #

p.Gly362Ser

Missense

Missense

42

48,1

47.9

15 HD

No

50 y

2 mo

112.9 / 5.16

LKTx 1/2009

SOF, eGFR 40 ml/min

14

F13

m

c.449 T > C; c.1110_1111delCG

p.Leu150Pro

p.(Asn372Cys*40)

Missense

Frameshift

0.1

36

47

17 HD

No

48 y

11 mo

130.34 / 67.13

LTx in 2017

Death at 49 years, septicemia

15

F14

m

c.733_734del AA;

c.733_734del AA

p. (Lys245Valfs*9)

p. (Lys245Valfs*9)

Frameshift

Frameshift

0.7

12

20

51 HD

No

23 y

1 mo

74.47 / 22.59

LTX in 2018 and KTx in 2019

Back on HD in 2020

16

F15

f

c.122G > A;

c.508G > A;

p.Gly41Glu

p.Gly170Arg #

Missense

Missense

0.4

13

19

15 HD

Yes

20 y

92.46 / 9.11

LKTx in 2012

SOF, eGFR

74 ml/min

17

F16

f

c.508G > A;

c.846-3C > G

p.Gly170Arg #

p.?

Misssense

Splicing

2

15

22

72 HD

Yes

30 y

3 mo

110.93 / 84.03 after LTx and 42.78 after KTx

KTx in 2013 and failure in 2014, LTx in 2019 and KTx in 2020

SOF, eGFR 58.8 ml/min

18

F17

f

c.560C > T;

c.560C > T

p.Ser187Phe

p.Ser187Phe

Missense

missense

0.1

0.5

16

46 HD

Yes

19 y

6 mo

82.48 / n.a

LTx in 2019 and KTx in 2020

SOF, eGFR 37.4 ml/min

19

F18

m

c.731 T > C;

c.731 T > C

p.Ile244Thr #

p.Ile244Thr #

Missense

missense

6.2

6.8

22.5

24 HD

Yes

25 y

n.a / 11.0 after LTx and 17.4 after KTx

LTx in 2020 with 2nd liver one day later after ALF, KTx in 06/2021

SOF, eGFR 46 ml/min

  1. iKTx = isolated kidney transplantation, LTx = liver transplantation, LKTx = liver/kidney transplantation; all transplantation cadaveric unless otherwise stated; PD = peritoneal dialysis, HD = hemodialysis, ALF = acute liver failure, eGFR = estimated glomerular filtration rate (CKD-EPI formula), SOF = stable organ function, Pat. = patient, Fam. = family, VB6 = vitamin B6, hz = homozygous, y = year, mo = months, f = female, m = male.
  2. §Immediate kidney graft failure and need for ongoing hemodialysis treatment.
  3. #Indicates potential pyridoxine sensitive AGXT missense mutations.
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