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Table 1 Demographic data

From: Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution

Groups Case # Final histologic diagnosis Specimena Age Sex Pertinent disease or congenital disorders Portal hyertension (Y/N) Liver imaging ALT AST ALP TB Treatment Follow-up (months) Outcome
CHF CHF-c 1 CHF Bx (x2) 11 F ADPKD Y Cirrhosis with multiple liver nodules 39 42 104 2.4 Transjugular intrahepatic portosystemic shunt 144 Alive, stable
2 CHF Bx (x2) 6 M ADPKD Y Cirrhosis 155 98 136 0.5 Kidney transplant 144 Alive, stable
3 CHF Bx 22 M ARPKD, spina bifida Y Cirrhosis 48 57 706 9.2 Kidney transplant (x3) and liver transplant 93 Alive
4 CHF Bx 55 F Chronic renal failure of unknown cause Y Cirrhosis with enhancing lesion 37 84 130 0.3 Dialysis, splenorenal shunt 4 Deceased (sepsis, multiorgan failure)
5 CHF Bx 1 M Congenital hypoglycemia, hyperammonemia, seizure, developmental delay N Hepatosplenomegaly, mild central intrahepatic duct dilatation 49 45 388 0.5 N/A 14 Alive, stable
6 CHF Bx 18 F ARPKD, Caroli syndrome, alpha1antitrypsin deficiency (PiMS) Y Caroli's disease 23 20 44 1.3 N/A 21 Alive
7 CHF Bx 11 M ADPKD, hereditary pancreatitis (PRSS1 mutationN291) Y Cirrhosis 25 28 169 <0.2 N/A 17 Alive
8 CHF Bx 19 M Fragile X syndrome, cognitive impairment (autism) Y Multiple bridging band of fibrosis, innumerable (>20) macronodule 279 369 351 1.5 N/A 14 Alive
CHF-i 9 CHF and steatohepatitis Bx 70 F Diabetes, Anti-mitochondria 1:320, steatohepatitis N Cirrhosis 222 132 118 N/A N/A 72 Alive, stable
10 CHF Bx 65 F Epigastric pain, weight loss N Cirrhosis 17 23 80 0.3 N/A 39 Alive, stable
11 CHF and hepatocellular carcinoma Explant 56 M Hepatitis C cirrhosis Y Cirrhosis and liver lesion 44 146 73 42.7 Liver transplant 14 Deceased ( metastatic carcinoma )
12 CHF and hepatocellular carcinoma Resection 71 M Alcohol use Y Liver lesion 35 28 70 0.9 N/A 1 Alive
13 CHF and cholangiocarcinoma Resection 70 F Crohn's disease, stage IV descending colon cancer Y Liver lesion 45 33 72 0.8 N/A 33 Alive
Mimics 14 Paucity of intrahepatic bile duct Bx (x4) 12 M Nephronophthisis type 11 (Homozygous TMEM67 gene 1843T>C 2012) Y Cirrhosis 169 253 1409 1.3 Kidney transplant 127 Alive, pending Liver transplant
15 HPS/NRH Bx + explant 16 M Nephrolithiasis Y Cirrhosis 45 18 107 0.5 Liver transplant 192 Alive
16 HPS Bx (x3) 22 F Hepatosplenomegaly and liver failureat 6 month of age Y Cirrhosis 38 30 74 2 N/A 38 Alive
17 HPS/NRH Bx 44 F Unilateral renal agenesis, long-term dialysis dependence Y Possible cirrhosis 9 18 181 1 N/A 1 Alive
18 HPS Bx 3 F Alport syndrome (Monoallelic POLG1 mutation), failure to thrive N Nodular liver surface 28 45 173 0.2 N/A 45 Deceased (Lemierre syndrome)
19 HPS/NRH Bx 62 M Chronic kidney disease, cardiomyopathy and heart failure N Cirrhosis 9 19 53 0.7 N/A 15 Deceased (Heart failure)
  1. Abbreviation: CHF congenital hepatic fibrosis, CHF-c congenital hepatic fibrosis clinically suspected, CHF-i congenital hepatic fibrosis as incidental findings, HPS hepatoportal sclerosis, NRH nodular regenrative hyperplasia, Bx biopsy, N/A not applicable or not known, ALT alanine aminotransferase, AST aspartate aminotransferase, ALP alkaline phosphatase, TB total bilirubin
  2. a The number between brackets represent number of biopsies performed