Table 2 Clinical features, urinary bile acid profiling, treatment, and outcome of patients with HSD3B7 deficiency
Patients | Gender | Age at onset | Age at first referral† | Presenting symptoms | Liver biochemistries | Urinary bile acids profiling§ | Treatment after diagnosis | Status/age at last follow-up | Liver biochemistries | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
TB/DB (µmol/L) | ALT/AST (U/L) | TB/DB (µmol/L) | ALT/AST (U/L) | ||||||||
P1 | M | 1.5mo | 5.7mo | Neonatal cholestasis, hepatomegaly | 85.6/36.6 | 159/154 | + | UDCA × 2 y, CDCA× 10y1mo | Normal/12y | 5.6/2.4 | 32/22 |
P2 | M | 10d | 16.5mo | Renal cysts, abnormal liver biochemistries, hepatomegaly with a history of transient neonatal cholestasis | 24.7/20.1 | 128/72 | + | UDCA × 2.5 y, CDCA ×7y6mo | Normal/11.2y | 11.4/4 | 13.7/23 |
P3 | M | 5d | 4.5mo | Neonatal cholestasis, hepatomegaly | 133.9/65.5 | 36/85 | NA | NA | Liver failure, then to lost follow-up/8mo | 488.4/343.1 | 268/356 |
P4 | F | 7d | 4.5mo | Neonatal cholestasis, hepatosplenomegaly | 137.3/102 | 51/164 | + | NA | Died/10mo | NA | NA |
P5 | M | 5d | 3.7mo | Neonatal cholestasis, hepatosplenomegaly | 157.7/122.3 | 521/356 | + | CDCA× 7y | Normal/7.3y | 11.3/4.7 | 5/15 |
P6 | M | 16.8y | 17.2y | Cholestasis, hepatosplenomegaly and then liver failure | 96/68 | 62/46 | NA | NA | Died/17.2y | 720/593 | 179/104 |
P7 | M | 1mo | 2.2mo | Neonatal cholestasis, coagulopathy, abdominal hematoma | 123.9/75.7 | 157/132 | + | NA | Lost follow-up/2.2mo | 260.7/195.5 | 244/625 |
P8 | F | 3.5y | 4.3y | Coagulopathy of vitamin K1 deficiency, abnormal liver biochemistries, hepatosplenomegaly | 32/24 | 51/70 | + | CDCA × 6y2mo | Normal/10.4y | 13/2.6 | 25/9 |
P9 | M | 1mo | 6.6mo | Neonatal cholestasis, hepatomegaly | 151.3/108.75 | 812/819 | + | CDCA × 5y8mo | Normal/6.2y | 6.1/2.1 | 16.3/25.3 |
P10 | M | 2-3d | 3.4mo | Neonatal cholestasis, hepatosplenomegaly | 77.4/55.1 | 71/76 | + | CDCA × 6y | Normal/6.3y | 6/2.6 | 10.6/27.3 |
P11 | M | 2d | 5.2mo | Neonatal cholestasis, hepatomegaly | 164.1/109.9 | 376/297 | + | CDCA × 12d | Liver biochemistries worsen/6mo | 163.4/134.5 | 340/370 |
P12 | F | 1.5mo | 2.6mo | Neonatal cholestasis | 191.4/123.1 | 152/210 | + | CDCA × 2y4mo | Normal/2.5y | 10.6/2.4 | 16/31 |
P13 | F | 10d | 2mo | Neonatal cholestasis, hepatomegaly | 103.3/85.9 | 284/216 | + | CDCA × 3y10mo | Normal/4y | 12.4/3.7 | 16.8/31.6 |
P14 | M | 2mo | 6.3mo | Neonatal cholestasis | 335.9/236.8 | 768/608 | + | CDCA × 4y | Normal/4.5y | 16.6/2.14 | 13.2/24 |
P15 | F | 3d | 6.6y | Recurrent cholestasis, splenomegaly | 46.2/14.3 | 26/34 | + | CDCA × 2y11mo | Normal/9.5y | 11.5/2.4 | 20/25 |
P16 | F | 3d | 5.8mo | Neonatal cholestasis | 98/59.3 | 181/276 | + | CDCA × 3y4mo | Normal/3.8y | 5.1/1.9 | 13.9/30.2 |
P17 | F | 2mo | 4.8mo | Neonatal cholestasis, hepatomegaly | 81.9/37.7 | 75/197 | + | CDCA × 2y5mo | Normal/2.8y | 9.7/3.2 | 25.21/40.32 |
P18 | F | 1mo | 4.6mo | Neonatal cholestasis | 82.5/51.1 | 83/97 | + | CDCA × 2y9mo | Normal/3.2y | 7.6/2.8 | 17.48/26.43 |
P19 | M | 3d | 1.7mo | Neonatal cholestasis | 214.7/151 | 212/282 | + | CDCA × 1y9mo | Normal/1.9y | 3.1/1.7 | 37/31 |
P20 | M | 2d | 5.5mo | Neonatal cholestasis, hepatosplenomegaly | 138.1/68.8 | 327/485 | + | CDCA × 2y5mo | Normal/2.8y | 7/2 | 22/38 |
P21 | M | 10d | 11.5mo | Neonatal cholestasis, liver failure, hepatosplenomegaly, pneumonia | 309/213.6 | 72/154 | + | CDCA × 10d, then liver transplanted | Aliver/4.8y | 14.2/4.8 | 42.5/48.3 |
P22 | M | 3-4d | 4.9y | liver cirrhosis, hepatosplenomegaly with a history of transient neonatal cholestasis | 20.2/13.8 | 47/61 | + | CDCA × 3y | Normal/7.9y | 5/1.9 | 24.53/26.98 |
P23 | M | 1mo | 8.7mo | Neonatal cholestasis | 41.4/23.3 | 291/204 | + | UDCA × 9mo | Hyperbilirubinemia resolved and transaminase slightly elevated /10mo | 19.7/10.1 | 151/86 |
P24 | M | 11d | 2.4mo | Neonatal cholestasis, hepatosplenomegaly | 141.2/70.1 | 134/131 | + | CDCA × 2y1mo | Normal/2.3y | 7.9/3 | 31.4/43.2 |
P25 | M | 3d | 3mo | Neonatal cholestasis, hepatosplenomegaly | 204.9/101.3 | 279/393 | + | CDCA × 3mo, then liver transplanted | Aliver/3.4y | 327.2/150.2 | 116/289 |
P26 | M | 1mo | 2.2mo | Neonatal cholestasis | 88.9/49.5 | 107/137 | + | CDCA × 3y2mo | Normal/3.4y | 5/0.8 | 31/54 |
P27 | M | 7d | 2.2mo | Neonatal cholestasis | 125/85 | 40/132 | + | CDCA × 1y1mo | Normal/1.3y | 15.2/5.2 | 41.2/44.1 |
P28 | M | 18d | 8mo | Neonatal cholestasis | 165/59 | 46/294 | + | CDCA × 3mo, then liver transplanted | Died /11mo | 201.3/62 | 182/662 |
P29 | M | 3d | 4.6mo | Neonatal cholestasis | 96/37 | 111/167 | + | CDCA × 2y2mo | Normal/2.5y | 6.3/1.5 | 16/28 |
P30 | M | 7d | 7.8mo | Neonatal cholestasis | 128.6/69.3 | 84/406 | + | CDCA × 3mo, then liver transplanted | Alive/2.7y | 126.9/68.6 | 377/518 |
P31 | F | 4y | 5.2y | Liver cirrhosis, splenomegaly | 15.3/3.6 | 40/NA | + | CDCA × 2y6mo | Normal/7.7y | 22.8/8.3 | 25/33 |
P32 | F | 3d | 3.3mo | Neonatal cholestasis | 170.4/93.9 | 290/153 | + | CDCA ×1y5mo | Normal/1.8y | 8.4/5 | 31/45 |
P33 | F | 3d | 5mo | Neonatal cholestasis | 74.6/42.8 | 100/200 | + | CDCA × 12mo | Normal/1.4y | 5.5/1.1 | 31/49 |
P34 | M | 3d | 1.8mo | Neonatal cholestasis | 141.2/92.1 | 119.8/136.7 | + | CDCA × 3mo, then liver transplanted | Alive/1.3y | 333.5/273 | 585.1/668.1 |
P35 | F | 4.5y | 4.7y | Liver cirrhosis, splenomegaly | 29.4/17.9 | 37.6/50.2 | + | CDCA × 11mo | Hypersplenism improved/5.7y | 11.8/4.8 | 16/24.9 |
P36 | M | 1mo | 4.4mo | Neonatal cholestasis | 436/327.1 | 938.4/1526.8 | NA | CDCA × 1mo | Died /6mo | 863.1/508.8 | 284.5/321.7 |
P37 | M | 1mo | 1.8y | Neonatal cholestasis, liver failure | 45/35.2 | 217.2/385 | NA | CDCA × 12mo | Normal /2.4y | 9.1/4.1 | 23.78/38.21 |
P38 | F | 3d | 4mo | Neonatal cholestasis | 88/66 | 189.3/170.5 | NA | CDCA × 4mo | Hyperbilirubinemia resolved and transaminase slightly elevated /1.1y | 8.2/3.1 | 67.06/62.44 |
P39 | F | 2d | 4.7mo | Neonatal cholestasis | 186.8/155.6 | 265/428.8 | NA | CDCA × 2.5mo | Died/7mo | 494.5/291.5 | 551/559 |
Reference range | 3.4–17.1/ 0–6 | 9–50/15–40 | 3.4–17.1/ 0–6 | 9–50/15–40 | |||||||