Table 1.
Clinical features and PAX2 mutations observed in 10 pediatric patients
| Patient (No.) | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
|---|---|---|---|---|---|---|---|---|---|---|
| Gender | F | M | F | F | M | M | M | F | F | F |
| Onset age(years) | 9.8 | 4.3 | 7.8 | 4 | 5 | 9.7 | 2.1 | 10 | 14.8 | postnatal day |
| Renal manifestations | ||||||||||
| Age of abnormal Scr/Onset of ESRD (years) | 9.8/9.8 | 4.3/‐ | 7.8/11.2 | 10.9/‐ | 10.2/‐ | 11/‐ | 2.1/‐ | 10/16.4 | 15.2/‐ | postnatal day/‐ |
| Urinary findings | PU, GU | PU, mHU | PU | PU | PU, mHU | PU | PU, HCU | PU | PU | PU, mHU |
| 24h urinary protein (g/24hr) | 3.96 | 0.25 | 1.34 | 2.24 | 2.72 | 0.43 | 1.92 | 2.14 | 2.42 | 0.99 |
| Nephrotic‐level proteinuria | + | ‐ | ‐ | + | + | ‐ | + | + | ‐ | + |
| GFR (ml/min/1.73 m2) | 2.9 | 64 | 15 | 41.7 | 59 | 59.6 | 29.4 | 5.2 | 25.1 | 68 |
| Renal gross morphology | ||||||||||
| Age at renal ultrasound (years) | 10.1 | 5.7 | 11.2 | 13.1 | 10.3 | 11.8 | 2.1 | 16.4 | 15.2 | 2.2 |
| Bilateral renal hypoplasia | + | + | + | ‐ | + | + | + | + | + | ‐ |
| Unilateral renal hypoplasia | ‐ | ‐ | ‐ | +(right) | ‐ | ‐ | ‐ | ‐ | ‐ | +(right) |
| Multiple renal cysts | ‐ | ‐ | ‐ | +(right) | ‐ | ‐ | +(bilateral) | ‐ | ‐ | ‐ |
| Single renal cysts | ‐ | ‐ | ‐ | ‐ | ‐ | +(left) | ‐ | +(right) | ‐ | +(right) |
| Renal biopsy | ||||||||||
| Age at renal biopsy(years) | NA | 5.7 | NA | NA | 10.3 | 11.8 | NA | NA | 15.2 | NA |
| BMI (95 percentile) | NA | 16.4 (17.9) | NA | NA | 17.4 (22.2) | 20.9 (23.5) | NA | NA | 26.4 (24.8) | NA |
| Pathology | NA | Oligomeganephronia combined with atypical MN | NA | NA | MsPGN combined with glomerular hypertrophy and chronic renal tubulointerstitial nephropathy | Focal proliferative sclerosing purpura nephritis with glomerular hypertrophy | NA | NA |
FSGS with chronic tubulointerstitial nephropathy |
NA |
| Ophthalmological findings | ||||||||||
| Morning glory anomaly | ‐ | NA | ‐ | + | ‐ | NA | NA | ‐ | + | ‐ |
| Abnormal retinal pigment epithelium | ‐ | NA | ‐ | ‐ | + | NA | NA | ‐ | + | ‐ |
| Macular coloboma | ‐ | NA | ‐ | + | ‐ | NA | NA | ‐ | ‐ | ‐ |
| Microphthalmia | ‐ | NA | ‐ | ‐ | ‐ | NA | NA | + | ‐ | ‐ |
| Amblyopia | ‐ | NA | ‐ | ‐ | + | NA | NA | ‐ | ‐ | ‐ |
| Strabismus | ‐ | NA | + | + | ‐ | NA | NA | ‐ | ‐ | ‐ |
| Other findings | ||||||||||
| Microcephaly | ‐ | ‐ | ‐ | + | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ |
| Developmental delay | ‐ | ‐ | ‐ | + | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ |
| Growth retardation | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | + | ‐ | ‐ | ‐ |
| Metatarsal microsomia | ‐ | ‐ | ‐ | ‐ | ‐ | + | ‐ | ‐ | ‐ | ‐ |
| Congenital ventricular septal defect | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | + | ‐ | ‐ |
| Ovarian teratoma | ‐ | ‐ | ‐ | + | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ |
| Gout | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | + | ‐ |
| PAX2 mutation | ||||||||||
| Nucleotide alteration | c.88G > T | c.76dupG | c.76dupG | c.76delG | c.76delG | c.272C > T | c.343C > T | c.418C > T | c.418C > T | c.410 + 1G＞A |
| Deduced protein change | p. Gly30Cys | p. Val26Glyfs*28 | p. Val26Glyfs*28 | p. Val26Cysfs*3 | p. Val26Cysfs*3 | p. Ala91Val | p. Arg115* | p. Arg140Trp | p. Arg140Trp | ‐ |
| Location | EX2 | EX2 | EX2 | EX2 | EX2 | EX3 | EX3 | EX4 | EX4 | IVS3 |
| Zygosity (Segregation) | Het (NA) | Het (NA) | Het (N) | Het (N) | Het (N) | Het (NA) | Het (NA) | Het (N) | Het (N) | Het(N) |
| Reference | This study | Sanyanusin P (Sanyanusin, McNoe, Sullivan, Weaver, & Eccles, 1995) | Sanyanusin P (Sanyanusin et al., 1995) | Heidet L (Heidet et al., 2017) | Heidet L (Heidet et al., 2017) | This study | Schimmenti LA (Schimmenti, Manligas, & Sieving, 2003) | Negrisolo S.a | Negrisolo S.a | This study |
F, female; M, male; PU, proteinuria; mHU, microscopic hematuria; HCU, hypercalciuria; GU, glycosuria; GFR: glomerular filtration rate, use 24h creatinine clearance to evaluate; MN, membranous nephropathy; MsPGN: mesangial proliferative glomerulonephritis; FSGS: focal segmental glomerulosclerosis; BMI: body mass index; NA: not available; N: Mutations could not be found in father or mother. Accession no: NM_ 003990.4.
a
Reference Leiden Open Variation Database (LOVD).