Table 3.
Reported familial cases of PAX2 mutation.
| Sanyanusin et al. (16) | Porteous et al. (17) | Ford et al. (18) | Fletcher et al. (19) | Bower et al. (2) | Okumura et al. (20) | Iwafuchi et al. (21) | |
|---|---|---|---|---|---|---|---|
| Case number | 4 | 6 | 4 | 3 | 12 | 5 | 3 |
| Onset age | 10 weeks ~ childhood | NA | Prenatal ~ 35 years | 1.5–21 years | NA | One at 18 years | 0–20 years |
|
Renal presentation Renal morphology |
Three with bilateral renal hypoplasia | Three with bilateral renal hypoplasia, one with cyst, one with nephrolithiasis | Two with bilateral renal hypoplasia | Two with hypoplasia, one normal | Five with bilateral hypoplasia, two with single kidney with hypoplasia | Two with hypoplasia, the other two with malrotation | Two with bilateral renal hypoplasia, one with cysts |
| Proteinuria | Three with chronic mild proteinuria | NA | No | Two with nephritic range proteinuria, one with mild proteinuria | NA | NA | Proteinuria for all 3 cases |
| Renal biopsy | NA | NA | NA | NA | NA | One case with glomerulomegaly | One with FSGS |
| VUR | Three with VUR grade I ~ IV | One with VUR | Two with bilateral VUR grade III | One with bilateral VUR grade III~IV | Three with VUR | NA | NA |
| Renal function | CKD stage 2~5 | Normal ~ CKD stage 5 | CKD stage 2~5 | CKD stage 4~5 | Normal ~ CKD stage 5 | CKD stage 2~5 | CKD stage 3~5 |
| Age of progression to ESRD | 5–15 years | 21–35 years | 23–60 years | 14–24 years | 12–79 years | 44–61 years | 5–7 years |
| Other | One with nocturnal enuresis | ||||||
|
Extra-renal presentation Ophthalmology |
All 4 cases with bilateral optic nerve coloboma, one with strabismus and nystagmus | Fiver cases with optic nerve coloboma, the other one with optic nerve pits | Three with bilateral optic disc abnormality, one with absent left macula | All 3 cases with bilateral optic nerve coloboma | Three with small coloboma and small papilla, one normal | All 5 cases with bilateral optic nerve coloboma, one with visual field defect | Bilateral optic nerve atrophy, glaucomatous cupping |
| Neurodevelopment | One with autism | NA | Normal | NA | NA | NA | Normal |
| Hearing | NA | NA | NA | One with bilateral sensorineural hearing loss | NA | NA | NA |
| Other | One with CCAM, two with short stature | NA | One with nystagmus, esotropia | NA | NA | NA | Normal |
|
PAX2
mutation Nucleotide alteration |
c.561del | c.754C>T | c.619insG | c.139-148del | c.223-225dup | c.119_120delGC | c.76dup |
| Type of mutation | Frameshift | Non-sense | Frameshift | Frameshift | Insertion | Frameshift | Frameshift |
CCAM, congenital cystic adenomatoid malformation; CKD, chronic kidney disease; ESRD, end-stage renal disease; FSGS, focal segmental glomerulosclerosis; NA, not attributable; VUR, vesicoureteral reflux.