OBJECTIVETo investigate the current status of research on infantile cholestatic liver disease in China and future research trends.

METHODSA co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words.

RESULTSA total of 383 articles were included. The co-occurrence analysis showed that "infant" and "cholestasis" were the core of research in this field, and "infantile hepatitis syndrome", "neonate", "intrahepatic", "biliary atresia", "heredity and metabolism", "hepatitis", "cytomegalovirus", "jaundice", and "conjugated bilirubin" were main research topics. Most of the other articles focused on "parenteral nutrition", "hepatobiliary imaging", "gene mutation", and "liver biopsy". There were relatively few articles on surgical diagnostic techniques and treatment for this disease.

CONCLUSIONSThe research on infantile cholestatic liver disease in China focuses on etiology and differential diagnosis, and genetic diagnosis has become a hot topic in recent years. The research on treatment should be enhanced, and new diagnostic techniques are the research interest in future.

Cholestasis, Intrahepatic ; diagnosis ; etiology ; genetics ; therapy ; Humans ; Infant

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

Biliary Atresia ; diagnosis ; etiology ; therapy ; Bilirubin ; blood ; Biomarkers ; blood ; Calcium-Binding Proteins ; deficiency ; Cholangiopancreatography, Magnetic Resonance ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; therapy ; Citrullinemia ; diagnosis ; etiology ; therapy ; DNA Mutational Analysis ; Humans ; Infant ; Jaundice ; diagnosis ; etiology ; therapy ; Liver Function Tests ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation ; Organic Anion Transporters ; deficiency

OBJECTIVE: To evaluate the feasibility, safety and the effectiveness of the complex assembly of open cell nitinol stents for biliary hilar malignancy. MATERIALS AND METHODS: During the 10 month period between January and October 2007, 26 consecutive patients with malignant biliary hilar obstruction underwent percutaneous insertion of open cell design nitinol stents. Four types of stent placement methods were used according to the patients' ductal anatomy of the hilum. We evaluated the technical feasibility of stent placement, complications, patient survival, and the duration of stent patency. RESULTS: Bilobar biliary stent placement was conducted in 26 patients with malignant biliary obstruction-T (n = 9), Y (n = 7), crisscross (n = 6) and multiple intersecting types (n = 4). Primary technical success was obtained in 24 of 26 (93%) patients. The crushing of the 1st stent during insertion of the 2nd stent occurred in two cases. Major complications occurred in 2 of 26 patients (7.7%). One case of active bleeding from hepatic segmental artery and one case of sepsis after procedure occurred. Clinical success was achieved in 21 of 24 (87.5%) patients, who were followed for a mean of 141.5 days (range 25-354 days). The mean primary stent patency period was 191.8 days and the mean patient survival period was 299 days. CONCLUSION: Applying an open cell stent in the biliary system is feasible, and can be effective, especially in multiple intersecting stent insertions in the hepatic hilum.
Adult ; Aged ; Aged, 80 and over ; *Alloys ; Bile Duct Neoplasms/*complications ; Cholangiocarcinoma/*complications ; Cholestasis, Intrahepatic/etiology/*therapy ; Drainage/*instrumentation ; Female ; Gallbladder Neoplasms/complications ; Humans ; Male ; Middle Aged ; *Palliative Care ; *Stents

OBJECTIVETo study the therapeutic effect of glucocorticoid on early postoperative cholangiole cholestasis hyperbilirubinemia after liver transplantation.

METHODSThirteen liver transplantation recipients with serum total bilirubin above 171 micromol/L at two weeks to one month postoperatively were enrolled in this study. After exclusion of liver blood supply anomalies, bile duct complications, and acute rejection and establishment of a pathological diagnosis of cholangiole cholestasis by hepatic biopsy, hydrocortisone sodium succinate was infused. The liver functions of the patients were tested at 1 day before and 1 day and 1 week after the treatment. Hepatic biopsy was performed before and 1 week after the treatment to observe histopathological changes.

RESULTSThe serum levels of total bilirubin decreased significantly after the treatment with glucocorticoid. Pathology of the hepatic biopsy demonstrated the resolution of cholangiole cholestasis 1 week after the treatment.

CONCLUSIONGlucocorticoid treatment is effective for early postoperative cholangiole cholestasis hyperbilirubinemia after liver transplantation.

Adult ; Aged ; Cholestasis, Intrahepatic ; complications ; Female ; Humans ; Hydrocortisone ; analogs & derivatives ; therapeutic use ; Hyperbilirubinemia ; drug therapy ; etiology ; Liver Transplantation ; Male ; Middle Aged ; Postoperative Complications ; drug therapy

OBJECTIVETo investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease.

METHODSTwenty-six patients with NICCD were collected because of idiopathic intrahepatic cholestasis and jaundice. The diagnosis was made by routine laboratory data collection, tandem mass spectrometry (MS-MS) and gas chromatography mass spectrometry (GC-MS) analyses. SLC25A13 gene mutation was analyzed by using polymerase chain reaction (PCR), direct DNA sequencing and restriction fragment length polymorphism analyses. The patients were followed up for nearly 2 years.

RESULTSThe NICCD patients showed low birth weight and the average onset of jaundice was 29 days. Laboratory data showed liver dysfunction, hyperbilirubinemia, hypoproteinemia, high levels of alpha-fetoprotein, prolonged prothrombin time, hypoglycemia and hyperammonemia. MS-MS analysis of the blood samples revealed specific elevation of citrulline, methionine, threonine, tyrosine and elevation of free carnitine, short-chain and long-chain acylcarnitines. GC-MS analysis of the urine samples showed elevated 4-hydroxyl phenyllactic acid and 4-hydroxyl phenylpyruvic acid. Twelve different mutations were identified, including 4 novel mutations, i.e., G386V, R467X, K453R and 1192-1193delT. Forty-four mutated alleles were identified in the 52 alleles (84.6% ). Among them, 851del4, 1638ins23 and IVS6+5G>A mutations were the most frequent mutations, accounting for 40.9%, 20.5% and 11.4% of the total alleles examined respectively. Five of the 26 patients have not been recovered, including 4 died and 1 accepted liver transplantation. No obvious relationship was found between the genotype and phenotype in NICCD.

CONCLUSIONThe 851del4, 1638ins23 and IVS6+5G>A mutations are the hot-spot mutations in Chinese NICCD patients. Some NICCD patients have poor prognosis.

Base Sequence ; Calcium-Binding Proteins ; deficiency ; Case-Control Studies ; Child, Preschool ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; genetics ; therapy ; DNA Mutational Analysis ; Disease Progression ; Follow-Up Studies ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation ; Organic Anion Transporters ; deficiency ; Prognosis

Chemical and Drug Induced Liver Injury ; Cholestasis, Intrahepatic ; etiology ; pathology ; Cytochrome P-450 Enzyme System ; metabolism ; Drug Hypersensitivity ; Drug-Related Side Effects and Adverse Reactions ; Drugs, Chinese Herbal ; adverse effects ; Hepatocytes ; pathology ; Humans ; Liver ; drug effects ; metabolism ; pathology ; Liver Diseases ; epidemiology ; etiology ; pathology ; therapy ; Plants, Medicinal ; adverse effects ; chemistry ; Retrospective Studies

Cholestasis ; complications ; metabolism ; therapy ; Cholestasis, Intrahepatic ; etiology ; metabolism ; therapy ; Humans

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin. The baby (male, 6 months old) was referred to the First Affiliated Hospital with the complaint of jaundice of the skin and sclera, which it had suffered from for nearly 6 months. Physical examination showed obvious jaundice and a palpable liver 5 cm below the right subcostal margin. Liver function tests revealed elevated enzymatic activities, like GGT, ALP, AST, and ALT, together with increased levels of TBA, bilirubin (especially conjugated bilirubin), and decreased levels of total protein/albumin and fibrinogen. Blood levels of ammonia, lactate, cholesterol, and triglyceride were also increased, and in particular, the serum AFP level reached 319,225.70 microg/L, a extremely elevated value that has rarely been found in practice before. Tandem mass analysis of a dried blood sample revealed increased levels of free fatty acids and tyrosine, methionine, citrulline, and threonine as well. UP-GC-MS analysis of the urine sample showed elevated galactose and galactitol. The baby was thus diagnosed with suspected NICCD based on the findings. It was then treated with oral arginine and multiple vitamins (including fat-soluble vitamins A, D, E, and K), and was fed with lactose-free and medium-chain fatty acids enriched formula instead of breast feeding. After half a month of treatment, the jaundice disappeared, and the laboratory findings, including liver function indices, blood levels of ammonia, lactate and AFP, were returned to normal level. The baby was followed up for 6 months. It developed well, and the abnormal laboratory findings, including MS-MS and UP-GC-MS analysis results, have been corrected, except a slightly elevated lactate level sometimes. SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed.
Calcium-Binding Proteins ; deficiency ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; therapy ; Humans ; Infant ; Male ; Metabolism, Inborn Errors ; diagnosis ; etiology ; therapy ; Organic Anion Transporters ; deficiency

Adult ; Bile Ducts, Intrahepatic ; abnormalities ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; therapy ; Female ; Humans