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

Autochthonous hepatitis E virus (HEV) is an emerging pathogen in developed countries, and several cases of acute HEV infection have been reported in South Korea. However, there have been no reports on HEV-associated Guillain-Barré syndrome (GBS) in Korea. We recently experienced the case of a 58-year-old Korean male with acute HEV infection after ingesting raw deer meat. Persistent cholestasis was resolved by the administration of prednisolone. At 2.5 months after the clinical presentation of HEV infection, the patient developed weakness of the lower limbs, and was diagnosed with GBS associated with acute hepatitis E. To our knowledge, this is the second report on supportive steroid therapy for persistent cholestasis due to hepatitis E, and the first report of GBS in a Korean patient with acute HEV infection.
Acute Disease ; Alanine Transaminase/blood ; Antibodies, Viral/blood ; Aspartate Aminotransferases/blood ; Bilirubin/analysis ; Cholestasis/*drug therapy ; Guillain-Barre Syndrome/complications/*diagnosis ; Hepatitis E/*diagnosis/etiology ; Hepatitis E virus/immunology ; Humans ; Immunoglobulin M/blood ; Liver/pathology ; Male ; Middle Aged ; Prednisolone/therapeutic use ; Republic of Korea ; Steroids/*therapeutic use

Enterolith is a rare complication of Billroth II gastrectomy. Most enterolith cases have been reported in association with diverticula, tuberculosis, and Crohn's disease. We report the case of a huge enterolith that developed in the duodenal stump following common bile duct obstruction and cholangitis, necessitating surgery. The enterolith was clearly visible on the abdominal computed tomography. It was removed through a duodenotomy. The surgery was successful without any significant complications.
Abdomen/diagnostic imaging ; Aged ; Cholestasis/*diagnosis/etiology/surgery ; Duodenal Diseases/*diagnosis/etiology/surgery ; Female ; Gallstones/complications/diagnosis ; Gastroenterostomy ; Humans ; Tomography, X-Ray Computed

OBJECTIVETo analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians.

METHODThree sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent. All exons and the intron-exon boundaries of NPC1 gene were examined by bi-directional sequencing.

RESULTThree patients, 1 female and 2 males, aged from 2 months to 5 years and 10 months, all first complained of jaundice in the neonatal period. Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin. Total bile acid, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were also increased, while high-density lipoprotein cholesterol decreased. All patients were also accompanied by hepatosplenomegaly, with two of them having increased bronchovascular markings in chest X-ray. Two heterozygous changes of NPC1 gene, c.2741G>T +c.3020C>G (p. C914F + p. P1007R), c.2177G>C + c.3734_ 3735delCT (p.R726T + p. P1245RfsX12), and c.2054T>C + c.2128C>T(p.I685T + p.Q710X), were identified in patient 1, 2 and 3, respectively.

CONCLUSIONWe reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China. For newborns with prolonged jaundice in the neonatal period, as well as neonatal cholestasis, hepatosplenomegaly, Niemann-Pick type C should be included in consideration of differential diagnosis. Genetic testing can identify causative mutations for diagnosis.

Asian Continental Ancestry Group ; Bile Acids and Salts ; Bilirubin ; Child ; Child, Preschool ; China ; Cholestasis ; etiology ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Lipoproteins, HDL ; Male ; Mutation ; Niemann-Pick Disease, Type C ; complications ; diagnosis ; genetics ; pathology ; Niemann-Pick Diseases ; Retrospective Studies ; Splenomegaly

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

The aim of this study was to investigate the clinical characteristics of acute hepatitis A during a recent outbreak in Korea. Data of patients diagnosed with acute hepatitis A from 2007 to 2009 were collected from 21 tertiary hospitals retrospectively. Their demographic, clinical, and serological characteristics and their clinical outcomes were analyzed. A total of 4,218 patients (mean age 33.3 yr) were included. The median duration of admission was 9 days. The mean of the highest ALT level was 2,963 IU/L, total bilirubin was 7.3 mg/dL, prothrombin time INR was 1.3. HBsAg was positive in 3.7%, and anti-HCV positive in 0.7%. Renal insufficiency occurred in 2.7%, hepatic failure in 0.9%, relapsing hepatitis in 0.7%, and cholestatic hepatitis in 1.9% of the patients. Nineteen patients (0.45%) died or were transplanted. Complications of renal failure or prolonged cholestasis were more frequent in patients older than 30 yr. In conclusion, most patients with acute hepatitis A recover uneventfully, however, complication rates are higher in patients older than 30 yr than younger patients. Preventive strategies including universal vaccination in infants and active immunization of hepatitis A to adult population should be considered for prevention of community-wide outbreaks of hepatitis A in Korea.
Acute Disease ; Adolescent ; Adult ; Age Factors ; Aged ; Child ; Child, Preschool ; Cholestasis/epidemiology/etiology ; Demography ; Hepatitis A/complications/*diagnosis/mortality ; Humans ; Kidney Failure, Chronic/epidemiology/etiology ; Liver Transplantation ; Middle Aged ; Morbidity ; Republic of Korea ; Retrospective Studies ; Tertiary Care Centers ; Young Adult

BACKGROUND/AIMS: There are several methods for obtaining tissue samples to diagnose malignant biliary strictures during endoscopic retrograde cholangiopancreatography (ERCP). However, each method has only limited sensitivity. This study aimed to evaluate the diagnostic accuracy of a combined triple-tissue sampling (TTS) method (on-site bile aspiration cytology, brush cytology, and forceps biopsy). METHODS: We retrospectively reviewed 168 patients with suspicious malignant biliary strictures who underwent double-tissue sampling (DTS; n=121) or TTS (n=47) via ERCP at our institution from 2004 to 2011. RESULTS: Among the 168 patients reviewed, 117 patients (69.6%) were eventually diagnosed with malignancies. The diagnostic sensitivity for cancer was significantly higher in the TTS group than the DTS group (85.0% vs 64.9%, respectively; p=0.022). Furthermore, the combination of brush cytology and forceps biopsy was superior to the other method combinations in the DTS group. With respect to cancer type (cholangiocarcinoma vs noncholangiocarcinoma), interestingly, the diagnostic sensitivity was higher for cholangiocarcinoma in the TTS group than the DTS group (100% vs 69.4%, respectively; p<0.001) but not for the non-cholangiocarcinoma patients (57.1% vs 57.1%, respectively). CONCLUSIONS: TTS can provide an improved diagnostic accuracy in suspicious malignant biliary strictures, particularly for cholangiocarcinoma.
Aged ; Ampulla of Vater/*pathology ; Bile Duct Neoplasms/complications/diagnosis/pathology ; Bile Ducts, Intrahepatic/*pathology ; Biopsy/*methods ; Biopsy, Needle ; Carcinoma/complications/diagnosis/pathology ; Cholangiocarcinoma/complications/*diagnosis/pathology ; Cholangiopancreatography, Endoscopic Retrograde/*methods ; Cholestasis/etiology ; Common Bile Duct Neoplasms/complications/*diagnosis/pathology ; Female ; Humans ; Male ; Middle Aged ; Pancreatic Neoplasms/complications/*diagnosis/pathology ; Retrospective Studies ; Sensitivity and Specificity

Cholestasis ; complications ; Consensus ; Humans ; Liver Diseases ; diagnosis ; etiology ; therapy ; Practice Guidelines as Topic

PURPOSE: We hypothesized that parenteral nutrition associated cholestasis (PNAC) would be more severe in small for gestational age (SGA) compared with appropriate for gestational age (AGA) very low birth weight (VLBW) infants. MATERIALS AND METHODS: Sixty-one VLBW infants were diagnosed as PNAC with exposure to parenteral nutrition with elevation of direct bilirubin > or =2 mg/dL for > or =14 days. Twenty-one SGA infants and 40 AGA infants matched for gestation were compared. RESULTS: Compared with AGA infants, PNAC in SGA infants was diagnosed earlier (25+/-7 days vs. 35+/-14 days, p=0.002) and persisted longer (62+/-36 days vs. 46+/-27 days, p=0.048). Severe PNAC, defined as persistent elevation of direct bilirubin > or =4 mg/dL for more than 1 month with elevation of liver enzymes, was more frequent in SGA than in AGA infants (61% vs. 35%, p=0.018). The serum total bilirubin and direct bilirubin levels during the 13 weeks of life were significantly different in SGA compared with AGA infants. SGA infants had more frequent (76% vs. 50%, p=0.046), and persistent elevation of alanine aminotransferase. CONCLUSION: The clinical course of PNAC is more persistent and severe in SGA infants. Careful monitoring and treatment are required for SGA infants.
Bilirubin/blood ; Case-Control Studies ; Cholestasis/diagnosis/epidemiology/*etiology ; Comorbidity ; Female ; Humans ; Infant, Newborn ; Infant, Premature, Diseases/epidemiology/etiology ; *Infant, Small for Gestational Age ; Infant, Very Low Birth Weight ; Liver/metabolism/physiopathology ; Male ; Parenteral Nutrition/*adverse effects

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