Table 2 Clinical features and outcomes of our 3 patients with NR1H4-related cholestasis
From: NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
ID | Patient 1 (Family I) | Patient 2 (Family II) | Patient 3 (Family III) |
|---|---|---|---|
Sex | male | male | male |
Consanguinity | no | no | no |
Family history | no | yes | no |
Gestational week | full term | full term | full term |
Birth weight (kg) | 3.50 | 4.20 | 3.85 |
Age at onset | 5.0 days | 3.0 days | 2.0 days |
Age at the first visit | 3.0 months | 3.0 months | 2.5 months |
Height | P25th | < P1th | < P1th |
Weight | P50th | < P1th | < P1th |
Age at last visit | 1.6 years | 3.0 months | 3.0 months |
Initial symptom | jaundice | jaundice | jaundice |
Hepatic phenotype | low-γ-glutamyl transferase cholestasis, hepatomegaly, and decompensated cirrhosis | low-γ-glutamyl transferase cholestasis and acute liver failure | low-γ-glutamyl transferase cholestasis, acute liver failure, and hepatomegaly |
Age at liver biopsy | 6.0 months (after liver transplantation) | / | 3.0 months |
Biopsy findings | swelling of hepatocytes, lymphocytic infiltration, and mild fibrous tissue proliferation | / | hepatocyte ballooning, multi-nucleated giant cells, cholestasis, fibrous tissue proliferation, infiltration of inflammatory cells, bile duct proliferation, hepatocellular necrosis, and decreased BESP expression |
Extra-hepatic phenotype | before LT: severe pneumonia, splenomegaly, hydrocele, massive ascites, elevated urinary microalbumin after LT: EBV infection, bowel obstruction, and right-sided diaphragmatic hernia | severe pneumonia, splenomegaly, and elevated urinary microalbumin | severe pneumonia, cholecystitis, splenomegaly, elevated urinary microalbumin, hyperammonemia, and hydrocele |
Liver transplantation (LT) | yes | no | no |
Age at LT | 4.0 months | / | / |
Outcomes | normal liver function at one year’s post-transplant | died of infection at 3 months of age | died of infection at 3 months of age |