Pediatric-onset primary biliary cirrhosis.
Unlike other autoimmune liver diseases, primary biliary cirrhosis (PBC) has not been reported in childhood. We report 2 cases of PBC diagnosed at 16 and 15 years of age, respectively. The first girl was noted to have increased liver enzyme levels at 16 years of age. Antimitochondrial antibody (AMA) was strongly positive, and serum quantitative immunoglobulin M level was 8.26 g/L (normal, 0.6-3 g/L). A liver biopsy specimen showed stage II PBC. Despite treatment with ursodeoxycholic acid, she developed progressive cholestasis, intractable pruritus, and a significant sensory neuropathy and weight loss eventually requiring liver transplantation. Her mother had PBC/autoimmune overlap syndrome and underwent successful liver transplantation at 34 years of age. The second girl had persistently elevated liver enzyme levels following cholecystectomy at 15 years of age for symptomatic cholelithiasis. Endoscopic retrograde cholangiopancreatography showed no abnormalities. AMA was positive at 1:160, and serum quantitative immunoglobulin was 6.96 g/L. A liver biopsy specimen showed stage II PBC, and her liver enzyme levels almost normalized after starting treatment with ursodeoxycholic acid. In conclusion, we present 2 liver biopsy-confirmed cases of pediatric-onset AMA-positive PBC. With increased awareness of early-onset PBC, further pediatric cases may be discovered.
Division of Gastroenterology, Department of Medicine, University of Alberta, 205 College Plaza, 8215-112 Street, Edmonton, Alberta, Canada T6G 2C7.
Yaser
Y
Dahlan
Leslie
L
Smith
Doug
D
Simmonds
Larry Douglas
LD
Jewell
Ian
I
Wanless
E Jenny
EJ
Heathcote
Vincent Gordon
VG
Bain
D000293:Adolescent; D017668:Age of Onset; D001323:Autoantibodies / Q000032:analysis; D001706:Biopsy; D002648:Child; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008105:Liver Cirrhosis, Biliary / Q000453:epidemiology* / Q000473:pathology* / Q000628:therapy; D016031:Liver Transplantation; D008862:Microsomes, Liver / Q000276:immunology; D008930:Mitochondria, Liver / Q000276:immunology; D019233:Retreatment; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
D001323:Autoantibodies; D002756:Cholagogues and Choleretics; D014580:Ursodeoxycholic Acid