. 2018 Sep 17;35:381–393. doi: 10.1016/j.ebiom.2018.08.024

Table 2.

Classification of Primary Cholangiopathies.

Cholangiopathy	Prevalence; Sex preponderance	Current therapy	Genetic cause	Ref.
Genetic
Alagille syndrome (ALGS)	2.2–3.3 in 100,000 live births; no sex preponderance	Medical: supportive	JAG1(majority), NOTCH2	[83]
Alagille syndrome (ALGS)	2.2–3.3 in 100,000 live births; no sex preponderance	Surgical: liver transplantation	JAG1(majority), NOTCH2	[83]
Caroli disease (CD) and Caroli syndrome (CS) with congenital hepatic fibrosis	0.1 in 100,000 live births; no sex preponderance	Medical: supportive	PKHD1	[84]
	0.1 in 100,000 live births; no sex preponderance	Surgical: portosystemic shunting, liver transplantation	PKHD1	[84]
Cystic fibrosis-associated liver disease	12.5 in 100,000 live births	Medical: Ursodeoxycholic acid (UDCA), supportive	CFTR	[85]; [86]
Cystic fibrosis-associated liver disease	12.5 in 100,000 live births	Surgical: liver transplantation	CFTR	[85]; [86]
Polycystic liver disease (autosomal dominant polycystic liver disease ADPLD, autosomal dominant polycystic kidney disease ADPKD, autosomal recessive polycystic kidney disease ARPKD)	ADPLD: 1–9 in 100,000 live births	Medical: supportive	ADPLD: PRKCSH, SEC63; ADPKD: PKD1, PKD2, GANAB; ARPKD: PKHD1	[84]; [87]
	ADPKD: 100–250 in 100,000 live births; ARPKD: 5 in 100,000 live births	Medical: supportive
		Surgical: aspiration of cyst fluid, liver transplantation (uncommon indication)
Idiopathic/multifactorial
Biliary atresia	5–14.3 in 100,000 live births; higher prevalence in Asia; female: male ratio 1.4:1	Medical: post-operative systemic corticosteroids, choleretic (agent stimulating bile flow)		[88]
Biliary atresia		Surgical: Kasai portoenterostomy, liver transplantation		[88]
Primary biliary cholangitis (formerly, primary biliary cirrhosis)	35 in 100,000; female: male ratio 9:1	Medical: UDCA, supportive		[89]
	35 in 100,000; female: male ratio 9:1	Surgical: liver transplantation		[89]
Primary sclerosing cholangitis	4 in 100,000; female: male ratio 1:2	Medical: supportive		[49]
Primary sclerosing cholangitis	4 in 100,000; female: male ratio 1:2	Surgical: therapeutic endoscopic retrograde cholangiopancreatography (ERCP), biliary reconstruction, liver transplantation		[49]
Autoimmune cholangitis	Not well-defined. Currently consideredas autoimmune hepatitis-PBC/PSC overlaps			[91]
Idiopathic childhood/ adulthood ductopenia	0.5 in 100,000; male preponderance	Medical: supportive		[92]
Idiopathic childhood/ adulthood ductopenia	0.5 in 100,000; male preponderance	Surgical: liver transplantation		[92]
IgG4-related sclerosing cholangitis	4.6 in 100,000 (Japan); male preponderance	Medical: systemic corticosteroids		[93]
IgG4-related sclerosing cholangitis	4.6 in 100,000 (Japan); male preponderance	Surgical: biliary stenting, liver transplantation		[93]
Malignant
Cholangio-carcinoma (de novo or malignant transformation from choledochal cysts, primary sclerosing cholangitis)	1–2 in 100,000 live births (North America)	Non-surgical: transarterial chemoembolization, transarterial radioembolization, radiofrequency ablation (for unresectable tumors)		[94]
	1–2 in 100,000 live births (North America)	Surgical: complete resection, liver transplantation		[94]