Bile Duct Neoplasms ; pathology ; surgery ; Carcinoma, Hepatocellular ; complications ; pathology ; surgery ; Cholestasis, Intrahepatic ; etiology ; pathology ; surgery ; Humans ; Liver Neoplasms ; complications ; pathology ; surgery ; Neoplasm Invasiveness

Hepatobiliary complications, such as stone recurrence, recurrent cholangitis, liver abscess, secondary biliary cirrhosis, and cholangiocarcinoma may occur after treatment for hepatolithiasis. However, few previous studies have addressed the risk factors and long-term outcomes after initial treatment. Eighty-five patients with newly diagnosed hepatolithiasis, actively treated for hepatolithiasis, constituted the cohort of this retrospective study. Patients were treated by hepatectomy or nonoperative percutaneous transhepatic cholangioscopic lithotomy. Long-term complications, such as recurrent cholangitis, liver abscess, secondary biliary cirrhosis, and cholangiocarcinoma, and their relationships with clinical parameters were analyzed. The mean follow-up period was 57.4 months. The overall hepatobiliary complication rate after the treatment was 17.6%. Multivariate analysis of suspected risk factors showed that complications were associated with age (HR, 1.046; CI, 1.006-1.089), bile duct stricture (HR, 4.894; CI, 1.295-18.495), and residual stones (HR, 3.482; CI, 1.214-9.981). In conclusion, several long-term hepatobiliary complications occur after hepatolithiasis treatment, and regular observation is necessary in patients with concomitant biliary stricture or residual stones.
Adult ; Aged ; Aged, 80 and over ; Bile Ducts, Intrahepatic/*surgery ; Biliary Tract ; *Biliary Tract Surgical Procedures ; Cholestasis, Intrahepatic/*surgery ; *Endoscopy ; Female ; Gallstones/*surgery ; Hepatectomy ; Humans ; Liver/surgery ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors ; Treatment Outcome

Citrin deficiency causes autosomal recessive disorders including adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The responsive gene of citrin deficiency, SLC25A13, locates on chromosome 7q21.3 and encodes citrin as a liver-type mitochondrial aspartate/glutamate carrier (AGC). The mutations on SLC25A13 will result in deficiency of citrin and CTLN2 or NICCD. Citrin deficiency was found at first in Japan. However, recently, some of cases were identified in China, Korea, Vietnam, Israel, Czech, United States and England, and racial differences of the SLC25A13 mutations were found, suggesting the patients with citrin deficiency maybe exist worldwide. In this article, authors reviewed the progresses in the study on citrin deficiency up to now and put forward authors' considerations for further research on it.
Animals ; Calcium-Binding Proteins ; deficiency ; genetics ; Cholestasis, Intrahepatic ; genetics ; surgery ; Chromosomes, Human, Pair 7 ; Citrullinemia ; etiology ; genetics ; surgery ; Humans ; Liver Transplantation ; Membrane Transport Proteins ; genetics ; Mitochondrial Membrane Transport Proteins ; Mitochondrial Proteins ; genetics ; Organic Anion Transporters ; deficiency ; genetics ; Point Mutation

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI and cholestatic biliary cirrhosis. After 4 cycles of intravenous pamidronate, LT was performed under intravenous anesthesia using a left lateral section from his mother without mechanical retractors. The operation time was 420 min and estimated blood loss was 520 mL requiring one unit of RBC transfusion. He was discharged without surgical complications. Therefore, LT should be considered for patients with end stage liver disease and OI under organic multidisciplinary cooperation.
Bone Density ; Bone Density Conservation Agents/therapeutic use ; Cholestasis, Intrahepatic/*diagnosis ; Diphosphonates/therapeutic use ; Fractures, Bone/drug therapy/etiology/radiography ; Humans ; Infant ; *Liver Transplantation ; Living Donors ; Male ; Osteogenesis Imperfecta/complications/*surgery