The First Case of Caroli Disease Presented as Diabetes and Gastric Perforation

Abstract

Shaoyun Wang, Cheryl Wang

Caroli disease is a rare autosomal recessive disorder with cystic changes in liver, kidney and pancreas. It is a genetic disorder involving PKHD1 gene, encoding fibrocystin, often seen in liver and kidney. This is the first case reported with diabetes and gastric perforation. This 26 years old man presented as diabetes and abdominal pain, which worsened as gastric perforation. He also had enlarged spleen, cystic liver and kidney. His ALT and AST were normal, but GGT and bilirubin were elevated. None of hepatic virus related antigen is positive. No autoimmune hepatitis antibody was found. His blood glucose was high, with the hemoglobinA1c of 12.3% and reduced postprandial C peptide, but negative autoimmune diabetic antibodies. He has an 18 years old sister who was operated at 12 years old due to gastric bleeding and her spleen was removed. She was also diagnosed as Caroli disease. Neither his parents had similar presentation. As PKHD1 gene encodes fibrocystin, which may present at any conjunction. While fibrocystin tights up tissues, vessels and walls of the hollow organs, it is my belief that the cystic changes due to PKHD1 deletion or mutation can happen in any organ or vessel. This explains why this patient presented as diabetes and gastric perforation.

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