Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

Table 1

Demographic data and clinical features.

Number	Sex	Age at presentation (months)	Type of presentation	Age at onset of ESRD (years)
Ia	Male	18	NC, distal RTA, renal stone	11
Ib	Female	18	Family screening, NC	6
Ic	Male	2	ESRD	At presentation
IIa	Female	12	NC, RTA, renal stone	11
IIb	Female	7	ESRD	At presentation
IIc	Female	2	Family screening, NC	8
IId	Male	2	Family screening, NC, CKD	4
IIIa	Female	60	ESRD	At presentation
IIIb	Female	36	ESRD	At presentation
IIIC	Male	24	Family screening, NC	Normal RFT
IIId	Male	7	ESRD	At presentation
IVa	Female	6	NC, renal stone, UTI	7
IVb	Female	1	Family screening, NC	Below 1 year
IVc	Male	48	NC, polyuria	CKD
IVd	Female	1	Family screening, NC	CKD
IVe	Male	4	ESRD, NC	At presentation
IVf	Female	3	Family screening, NC	CKD
IVg	Female	2	ESRD, NC	At presentation

Family number 1 (I), family number 2 (II), family number 3 (III), and family number 4 (IV).
ESRD: end-stage renal disease, NC: nephrocalcinosis, RTA: renal tubular acidosis, RFT: renal function test, CKD: chronic kidney disease, and UTI: urinary tract infection.