Table 2.
Clinical characteristics and outcome in patients with NR1H4 mutation
| Ref. |
|
Sex
|
Age at onset of symptoms
|
Age at initial evaluation
|
Symptoms
|
Lab parameters
|
Histology/IHC
|
Age at LTx
|
Outcome
|
||
|
GGT
|
INR (at onset)
|
AFP ng/mL
|
|||||||||
| Gomez-Ospina et al[6], 2016 | All cases had homozygous mutations | ||||||||||
| 1Patient 1 | F | 2 wk | 20 mo | J, FTT | 53 | 2 | 716 | Cirrhosis | 22 mo | 10 yr4 | |
| 1Patient 2 | M | 2 wk | 7 wk | J, FTT | 45 | 2 | 146000 | Fibrosis | 4.4 mo | 15 mo4 | |
| 2Patient 3 | F | 6 wk | 6 wk | J | 59 | 1.4 | 13900 | Fibrosis | ND | Died 8 mo | |
| 2Patient 4 | M | Birth | Birth | J, ascites, pleural effusion, ICB | - | - | Fibrosis | ND | Died at 4 wk | ||
| Himes et al[7], 2020 | Patient 5 and 7 had homozygous mutations | ||||||||||
| Patient 5 | M | 16 mo | 17 mo | J, ascites | 81 | 1.9 | 9610 | Cirrhosis | 20 mo | Alive at 8 yr of age, no graft steatosis | |
| 3Patient 6 | M | 3 wk | 1 mo | J, FTT, hydrothorax | - | - | - | - | ND | Died at 8 mo, liver failure | |
| 3Patient 7 | F | 1 wk | 4 mo | J, FTT, hydrothorax | - | - | > 100000 | - | ND | Died at 7 mo, liver failure | |
| Chen et al[27], 2019 | Patient had compound heterozygote mutation | ||||||||||
| Patient 8 | N/A | 3 mo | J, splenomegaly | 3.0 | > 80000 | - | ND | Died at 5 mo | |||
1
Family 1.
2
Family 2.
3
Family 3.
4
Post transplant both cases have hepatic steatosis and liver function test abnormalities.
AFP: Alpha fetoprotein; BSEP: Bile salt export pump; F: Female; FTT: Failure to thrive; FXR: Farnesoid X receptor; GGT: Gamma-glutamyltransferase; ICB: Intracranial bleed; IHC: Immunohistochemistry; INR: International normalized ratio; J: Jaundice; LTx: Liver transplantation; MDR3: Multidrug resistance protein 3; M: Male; N/A: Not applicable; ND: Not done.