Table 1 Clinical characteristics of three cases with BOR syndrome in this study*
Characteristics | Case 1 | Case 2 | Case 3 |
|---|---|---|---|
Gender | Female | Male | Female |
Age at presentation of renal anomalies (yrs) | 8 | 2 | 8 |
Age at presentation of extra-renal anomalies (yrs) | 0 | 0 | 0 |
Age at diagnosis (yrs) | 9 | 8 | 8 |
Family history | None | Brother | None |
Height (cm) | 115.5 cm (<-3SD) | 122 cm (-2.2SD) | 121 cm (-1.5SD) |
Weight (kg) | 18.7 Kg (-2.6SD) | 21 kg (-2.1SD) | 23.2 Kg (-1.6SD) |
Preauricular pits | Yes | Yes | Yes |
Branchial anomalies | Yes | Yes | Yes |
Hearing loss | Yes | Yes | Yes |
Urine volume (mL/24 h) (mL/kg/24 h) | 1850 ~ 2220 (94 ~ 112) | 1000 ~ 1700 (48 ~ 81) | 700 ~ 1300 (30 ~ 56) |
urine specific gravity | 1.009 ~ 1.011 | 1.005 ~ 1.008 | 1.006 ~ 1.010 |
urine protein (mg/kg/24 h) | 2+ (39.0 ~ 68.9) | ±~+ (31.9) | ±~+ (23.8 ~ 32.7) |
urine ALB mg/L (NRV: 0 ~ 30.00) | 996 | 214 | 426 |
urine B2M mg/L (NRV: 0 ~ 0.206) | 1.2 | 11.4 | 16.2 |
urine A1M mg/L (NRV: 0 ~ 12.00) | 7.0 | 28.6 | 45.1 |
urine IgG mg/L (NRV: 0 ~ 8.5) | 26.2 | 19.6 | 29.7 |
urine RBP mg/L (NRV: 0 ~ 0.70) | 0.55 | 6.29 | 15.86 |
eGFR (mL/min/1.73m2) | 36.0 | 19.4 | 8.9 |
SCr (µmol/L) | 117 | 229 | 495 |
BUN (mmol/L) | 23.0 | 17.1 | 31.4 |
CysC (mg/L) | 2.57 | 2.74 | 4.47 |
ALB (g/L) | 34 | 44 | 44 |
Chol (mmol/L) | 8.5 | 4.6 | 4.8 |
Hb (g/L) | 126 | 103 | 93 |
iPTH pg/mL | 80.1 | 56.5 | 1156.0 |
K+ mmol/L | 3.81 | 3.51 | 5.37 |
Imaging | RH (L + R) | RH (L + R) | RH (L + R) |
EYA1 variant (NM_000503.6) | c.1319G > A (p.Arg440Gln), Het | c.1319G > A (p.Arg440Gln), Het | c.1171delT (p.S391fs*9), Het |