Newer variants of progressive familial intrahepatic cholestasis

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

¹Family 1.

²Family 2.

³Family 3.

⁴Post 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.