Table 1.

Summary of the three cases.

Case	A	B	C
Onset age	19 years	7 days	34 years
Sex	Male	Female	Male
Renal presentation
Renal morphology	Bilateral hypodysplastic kidneys, left renal cyst	Bilateral hypodysplastic kidneys, left ectopic kidney	Bilateral hypodysplastic kidneys
VUR	Present	Absent	NA
Renal function	ESRD at age 9 years	ESRD at birth	CKD stage 3
Extra-renal presentation
Ophthalmology	Optic nerve dysplasia	Right optic disc coloboma	Bilateral optic nerve dysplasia
CNS	NA	Normal	NA
Hearing	Impairment	NA	NA
Other	Short stature, short digits	NA	Hyperuricemia
PAX2 mutation
Nucleotide alteration	c.70dupG	c.76dupG	c.76dupG
Zygosity	heterozygous	heterozygous	heterozygous

CKD, chronic kidney disease; ESRD, end stage renal disease; NA, not attributable; VUR, vesicoureteral reflux.