Table 1.

Liver disease etiologies in the new and combined patient cohorts

Etiology of liver disease	New cohort no. (no. with keratin mutations)	New and old* cohorts no. (no. with keratin mutations)
Hepatitis C	70 (2)	80 (2)
Hepatitis C/alcohol	28 (1)	28 (1)
Hepatitis B	43 (1)	44 (1)
Biliary atresia	47 (1)	47 (1)
Alcohol	13 (1)	33 (1)
Cryptogenic	13 (0)	68 (6)
Primary biliary cirrhosis	10 (1)	12 (1)
Primary sclerosing cholangitis	15 (0)	15 (0)
Acute fulminant hepatitis	14 (1)	35 (1)
Neonatal hepatitis	6 (0)	9 (0)
Autoimmune hepatitis	6 (0)	33 (0)
Metabolic/genetic†	18	23
Cystic fibrosis	(1)	(1)
Metabolic/other	(1)	(1)
Primary liver cancer‡	5 (0)	5 (0)
Drug-induced liver failure	2 (0)	9 (0)
Other§	20	22
Hepatic artery thrombosis	(1)	(1)
Unknown	4 (0)	4 (0)
Total	314 (11)	467 (17)

^*The old liver disease cohort was enriched for crytogenic cirrhosis (11). 

^† Metabolic/genetic diagnoses included four Wilson's disease, three hemochromatosis, three α1-antitrypsin deficiency, two cystic fibrosis, three primary oxalosis, one Crigler-Najjar, one ornithine transcarbamoylase deficiency, one Nieman–Pick, one arginosuccinicaciduria, one tyrosinemia, one cirtrolemia, one glycogen storage, and one “metabolic disease” that is unclassified. 

^‡ Patients with viral hepatitis and hepatoma were included under the appropriate viral hepatitis category. Primary liver cancers included one hepatoma, three hemangio-endotheliomas, and one hepatosarcoma. 

^§ The “Other” category of liver diseases included three Budd–Chiari, three hepatic artery thrombosis, two polycystic disease, one Caroli's disease, one Byler's disease, two chronic rejection, one primary graft nonfunction, one Klatskin tumor, one parenteral nutrition-induced, one carcinoid, one hepatitis B and C, one hepatitis B and alcohol, one multiple adenomas, one secondary biliary cirrhosis, one veno-occlusive disease, and one congenital hepatic fibrosis. At least 11 of the patients screened had received a prior orthotopic liver transplant.