Table 3 Manifestations of renal lesion and its revolution in patients with HSD3B7 deficiency
Patient | Age at first imaging | Renal imagine before chenodeoxycholic acid (CDCA) administration | Renal Tests | Management | Status of renal lesions/age at last follow-up | ||
|---|---|---|---|---|---|---|---|
Ultrasound | Magnetic Resonance Imagine | Serum Cr (µmol/L) | Urinalysis | ||||
P2 | 16.5mo | Medullary sponge kidney with calcification | Multiple small cystic high signal in bilateral renal medulla | 33.8 | Normal | UDCA × 2.5 y, CDCA 10 mg/kg/day ×7y6mo | Normalized/11.2y |
P5 | 3.7mo | Multiple abnormal echoes in the calyx | NA | 13 | Normal | CDCA 10 mg/kg/day × 7y | Normalized/7.3y |
P6 | 17.2mo | Renal stones | Renal cysts | 29 | Normal | - | NA |
P8 | 4.3y | Renal stones | NA | 18 | Normal | CDCA 10 mg/kg/day × 6y2mo | Normalized/10.4y |
P15 | 6.6y | Renal cysts with calcification | NA | 36 | Normal | CDCA 8 mg/kg/day × 3mo, 10 mg/kg/day × 2y8mo | NA |
P16 | 5.8mo | Renal cysts | Progressively abnormal signals | 14 | Normal | CDCA 10 mg/kg/day × 3y4mo | Normalized/3.8y |
P21 | 11.5mo | Calcium deposition | NA | 8 | Normal | CDCA 8 mg/kg/day × 7d, 6 mg/kg/day × 4d, then liver transplanted × 18mo | Normalized/4.8y |
P22 | 4.9y | Renal cysts | NA | 25 | Normal | CDCA 8 mg/kg/day × 21d, 5 mg/kg/day × 4mo, 6 mg/kg/day × 31mo | Normalized/7.9y |
P35 | 4.7y | Bilateral renal enlargement | NA | 29 | Normal | CDCA 3 mg/kg/day × 11mo | Improved/5.7y |
P37 | 1.8y | Renal cysts | Renal cysts | 17 | Normal | CDCA 4.5 kg/kg/day × 4mo | NA |