Newer variants of progressive familial intrahepatic cholestasis

Table 1 Clinical characteristics and outcome in patients with TJP2 mutation

Ref.	n	Age at onset of symptoms	Symptoms	Other symptoms	Treatment	Liver transplant	Outcome
Sambrotta et al[5]	12	1 wk-3 mo	NC-12/12	Chronic respiratory disease-1, recurrent unexplained hematoma-1	UDCA, PEBD-2	9/12 cases at the age of 1.5-10 yr	Post-transplant-9 (doing well, no disease recurrence); Stable liver disease with PHT-2; Mortality-1 at 13 mo age
Zhang et al[22]	7 (M = 6, F = 1)	3 d-2 mo	NC-6/7, pruritus at 7 mo-1/7	Gallstones 2/7	Response to UDCA, cholestyramine	None	Resolved cholestasis (n = 6) over 7-26 mo; Persisting icterus-1
Ge et al[46]	1 (F)	6mo	Jaundice, pruritus, FTT	-	Responded to medical treatment	None	Resolved cholestasis
Mirza et al[47]	1 (M)	4 yr	Jaundice, pruritus	-	Medical treatment	None	Cirrhosis, PHT with variceal bleed at 15 yr
Wei et al[24]	Index case (M) with multiple affected family members1	19 yr	Cirrhosis, PHT with variceal bleed, HCC at 22 yr	-	Medical treatment including EVL	23 yr	Well in post-transplant period

¹Variable severity of liver disease: Cholestatic liver disease requiring transplant, cholestatic liver disease and intrahepatic cholestasis of pregnancy in other affected members.

EVL: Endoscopic variceal ligation; F: Female; FTT: Failure to thrive; HCC: Hepatocellular carcinoma; M: Male; NC: Neonatal cholestasis; PEBD: Partial external biliary diversion; PHT: Portal hypertension; UDCA: Ursodeoxycholic acid.