Table 4.

Clinical and genetic characteristics of families with cases of infantile oxalosis

	Family	Gender	AGXT genotype 1	AGXT genotype 2	Index case	Family screening	Infantile oxalosis	Age diagnosis	Age ESKD	Age follow-up
Families with 1 case of infantile oxalosis (displaying intrafamilial variability)
A1		Female	c.1079G>A	c.1079G>A	-	-	Yes	0.2	0.2	8.7
A2		Female	c.1079G>A	c.1079G>A	Yes	-	-	5.7	6.1a	14
B1		Male	c.731T>Cb	c.731T>Cb	Yes	-	Yes	0.2	0.3	12
B2		Female	c.731T>Cb	c.731T>Cb	-	Yes	-	5.8	N/A	6.8
C1		Male	c.364C>T	c.364C>T	-	-	Yes	0.3	0.3	0.3c
C2		Female	c.364C>T	c.364C>T	Yes	-	-	0.2	N/A	3.6
D1		Male	c.595G>A	c.847-3C>G	Yes	-	Yes	0.7	0.7	6.4
D2		Female	c.595G>A	c.847-3C>G	-	Yes	-	2.5	N/A	7.0
E1		Male	c.33dupC	c.33dupC	Yes	-	Yes	0.7	0.6	1.6c
E2		Female	c.33dupC	c.33dupC	-	Yes	-	0.9	N/A	5.3
E3		Male	c.33dupC	c.33dupC	-	Yes	-	3.8	N/A	11
F1		Male	c.508G>Ab	N/A	Yes	-	Yes	0.5	0.5	N/A
F2		Female	c.508G>Ab	N/A	-	N/A	-	6.0	N/A	N/A
G1		Female	c.33dupC	c.33dupC	Yes	-	Yes	0.2	0.4	0.5c
G2		Female	c.33dupC	c.33dupC	-	Yes	-	0.07	N/A	24
G3		Female	c.33dupC	c.33dupC	-	Yes	-	0.01	N/A	23
H1		Male	c.508G>Ab	c.508G>Ab	Yes	-	Yes	0.4	0.3	26
H2		Male	c.508G>Ab	c.508G>Ab	-	Yes	-	4.9	N/A	27
I1		Male	c.244G>C	c.244G>C	Yesd	-	Yes	3.7	0.6	3.9c
I2		Male	c.244G>C	c.244G>C	Yesd	-	-	2.6	N/A	8.5
J1		Male	c.424-2A>G	c.424-2A>G	Yes	-	Yes	0.8	0.8	7.4
J2		Male	c.424-2A>G	c.424-2A>G	-	Yes	-	3.0	N/A	8.9
K1		Male	c.508G>Ab	c.508G>Ab	Yes	-	Yes	0.4	0.4	0.7c
K2		Female	c.508G>Ab	c.508G>Ab	-	Yes	-	5.8	N/A	16
L1		Male	c.508G>Ab	c.847-1G>C	Yes	-	Yes	1.0	0.9	6.0
L2		Male	c.508G>Ab	c.847-1G>C	-	Yes	-	4.0	N/A	9.4
Families with 1 case of infantile oxalosis identified by family screening (displaying intrafamilial variability)
M1		Male	c.33dupC	c.33dupC	-	Yes	Yes	0.08	0.7	1.3c
M2		Male	c.33dupC	c.33dupC	Yes	-	-	2.3	5.0a	21
M3		Female	c.33dupC	c.33dupC	-	Yes	-	4.0	24a	24c
M4		Female	c.33dupC	c.33dupC	-	Yes	-	3.6	N/A	21
N1		Female	Ex9_11del	Ex9_11del	-	Yes	Yes	0.05	0.3	8.0
N2		Female	Ex9_11del	Ex9_11del	Yes	-	-	12	12a	14
N3		Male	Ex9_11del	Ex9_11del	-	Yes	-	0.02	N/A	0.8
Families with recurrent infantile oxalosis (1 sibling identified by family screening)
O1		Male	c.33dupC	c.33dupC	Yes	-	Yes	0.2	0.2	0.3
O2		Female	c.33dupC	c.33dupC	-	Yes	Yes	0.01	0.4	3.2
P1		Male	c.798-802 delinsACAATCTCAG	c.798-802 delinsACAATCTCAG	Yes	-	Yes	0.4	0.3	4.5c
P2		Male	c.798-802 delinsACAATCTCAG	c.798-802 delinsACAATCTCAG	-	Yes	Yes	0.02	0.3	7.8c

ESKD, end-stage kidney disease; N/A, not applicable or available; PH1, primary hyperoxaluria type 1.

Patients are labeled by family (letter) and number, starting with the infantile case followed by siblings with PH1. Age or time is expressed in years.

^aReceived combined liver-kidney transplantation.

^bVitamin B6-responsive AGXT mutation.

^cPatient deceased.

^dDiagnosed at the same time.