Abstract:
BACKGROUND:Progressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high morbidity and mortality. Variants in the gene encoding tight junction protein-2 (TJP2) have been linked to PFIC type 4 (PFIC4), which predominantly presents in childhood. However, there are only limited data from adults with TJP2-related PFIC4. We report a family with an autosomal recessive disorder with a novel variant in the TJP2 gene in adults with very variable expression of PFIC4. CASE SUMMARY:The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers. In 2018, he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019. Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4 (TJP2([NM_004817.3]:c.[3334C>T]; [3334C>T])). The consanguineous family consists of the father and mother (both heterozygous) and their 12 children, of which five carry the variant in a homozygous state; however, these five siblings have highly variable expression of PFIC4. Two homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and 36. Two other homozygous brothers, age 23 and 19, and the homozygous sister, age 21, have elevated liver enzymes but presently no cirrhosis, which may suggest an age-dependent penetrance. In addition, five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state, respectively. CONCLUSION:This novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults.
journal_name
World J Gastroenteroljournal_title
World journal of gastroenterologyauthors
Wei CS,Becher N,Friis JB,Ott P,Vogel I,Grønbæk Hdoi
10.3748/wjg.v26.i5.550subject
Has Abstractpub_date
2020-02-07 00:00:00pages
550-561issue
5eissn
1007-9327issn
2219-2840journal_volume
26pub_type
杂志文章abstract::Hepatocellular carcinoma (HCC) is the most common primary malignancy of the liver. It is the second leading cause of cancer-related deaths worldwide, with a very poor prognosis. In the United States, there has been only minimal improvement in the prognosis for HCC patients over the past 15 years. Details of the molecu...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v25.i19.2279
更新日期:2019-05-21 00:00:00
abstract:AIM:To investigate the presence of human papillomavirus (HPV) DNA along with the integration, the quantification and the expression of the HPV16 in colorectal cancers. METHODS:A prospective series of colorectal tumors were genotyped for HPV DNA. The clinical and pathological variables of the HPV-positive tumors were c...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v21.i1.342
更新日期:2015-01-07 00:00:00
abstract::Alcohol-related cirrhosis is a consequence of heavy and prolonged drinking. Similarly to patients with cirrhosis of other etiologies, patients with alcoholic cirrhosis develop portal hypertension and the hepatic, splanchnic and systemic hemodynamic alterations that follow. However, in alcoholic cirrhosis, some specifi...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i25.8005
更新日期:2014-07-07 00:00:00
abstract:AIM:To analyze the benefits and harms of pancreatic cancer screening in familial high-risk individuals (HRIs). METHODS:Studies were identified by searching PubMed, EBSCO, ClinicalTrials.gov and the Cochrane database from database inception to June 2014. We also obtained papers from the reference lists of pertinent stu...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v21.i28.8678
更新日期:2015-07-28 00:00:00
abstract::While therapeutic strategies able to change the natural history of the disease are developing, it is of major importance to have available predictive factors for aggressive disease to try and target these therapeutic strategies. Clinical predictors have probably been the most broadly studied. In both Crohn's disease (...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i21.2600
更新日期:2010-06-07 00:00:00
abstract::We report a unique case of intramucosal carcinoma in a tubulovillous adenoma arising from a single diverticulum. Endoscopic mucosal resection (EMR) was carried out successfully and completely with the assistance of laparoscopy. A 71-year-old man was admitted to our hospital because of melena and anemia. Emergent colon...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i12.1545
更新日期:2010-03-28 00:00:00
abstract:AIM:To investigate the relationship between certain biochemical parameters of lipid metabolism in the serum and steatosis in the liver. METHODS:The grade of steatosis (0-3) and histological activity index (HAI, 0-18) in liver biopsy specimens were correlated with serum alanine aminotransferase (ALT), total cholesterol...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i41.6422
更新日期:2005-11-07 00:00:00
abstract:AIM:To explore the role of heat shock protein-90 (HSP-90) for nitrergic vasorelaxation in the splanchnic circulation in rats with and without portal hypertension. METHODS:Neuronal nitric oxide synthase (nNOS) and HSP-90 were analyzed by immunofluorescence, western blotting and co-immunoprecipitation in the mesenteric ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i15.1837
更新日期:2010-04-21 00:00:00
abstract:AIM:To develop a novel Helicobacter pylori (H. pylori) CagA antibody enzyme-linked immunosorbent assay (ELISA) suitable for detecting serum anti-CagA antibodies with high sensitivity. METHODS:Recombinant East Asian-type CagA protein was purified and immobilized for ELISA. Serum samples from 217 Vietnamese individuals ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v23.i1.48
更新日期:2017-01-07 00:00:00
abstract::Inflammatory bowel disease (IBD) includes two similar yet distinct conditions called ulcerative colitis (UC) and Crohn's disease (CD). These diseases affect the digestive system and cause the inflammation of intestinal tissue, form sores and bleed easily. Most children with IBD are diagnosed in late childhood and adol...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.15.788
更新日期:2009-02-21 00:00:00
abstract::Spices and herbal remedies have been used since ancient times to treat a variety of disorders. It has been experimentally demonstrated that spices, herbs, and their extracts possess antimicrobial, anti-inflammatory, antirheumatic, lipid-lowering, hepatoprotective, nephroprotective, antimutagenic and anticancer activit...
journal_title:World journal of gastroenterology
pub_type: 社论,评审
doi:10.3748/wjg.v16.i22.2710
更新日期:2010-06-14 00:00:00
abstract:AIM:To study the effect of nicotine on the migration and invasion of human esophageal squamous carcinoma cells and to investigate whether nimesulide can inhibit the effect of nicotine. METHODS:The esophageal squamous carcinoma cell line (TE-13) was treated with different concentrations of nicotine (100 microg/mL and 2...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.15.2500
更新日期:2009-05-28 00:00:00
abstract:AIM:To investigate the effect of synbiotics, i.e. probiotics and prebiotics mixture, on the gut microbial ecology and digestive enzyme activities in rats. METHODS:Forty-eight SD rats weighing about 280 g were used in this study. Rats were divided into three groups according to the contents of probiotics and prebiotics...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i47.7413
更新日期:2005-12-21 00:00:00
abstract:AIM:To investigate whether α-fetoprotein (AFP) and vascular endothelial growth factor receptor (VEGFR)-1 correlate with early recurrence of hepatoma/hepatocellular carcinoma (HCC). METHODS:From 2000 to 2005, 114 consecutive patients with HCC underwent primary curative hepatectomy. The mean age was 60.7 (8.7) years and...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v18.i4.340
更新日期:2012-01-28 00:00:00
abstract:AIM:To investigate the relationship between c.343A>G and c.2216A>C polymorphism sites in the CDH17 gene and colorectal carcinoma. METHODS:Ninety-three non-consanguineous colorectal carcinoma patients admitted to the Department of Oncology at the First Affiliated Hospital of Zhengzhou University were included in this s...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v18.i48.7251
更新日期:2012-12-28 00:00:00
abstract::Pernicious anemia (PA) is a macrocytic anemia that is caused by vitamin B(12) deficiency, as a result of intrinsic factor deficiency. PA is associated with atrophic body gastritis (ABG), whose diagnosis is based on histological confirmation of gastric body atrophy. Serological markers that suggest oxyntic mucosa damag...
journal_title:World journal of gastroenterology
pub_type: 社论,评审
doi:10.3748/wjg.15.5121
更新日期:2009-11-07 00:00:00
abstract:AIM:To explore the mechanism for interactions of leptin with ghrelin and orexin in the arcuate nucleus (ARC) activating neuropeptide Y (NPY) neurons during physiological regulation of feeding. METHODS:Single neurons from ARC of adult rats with matured feeding function were isolated. [Ca2+]i was measured to monitor the...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.14.6347
更新日期:2008-11-07 00:00:00
abstract:AIM:To perform a systematic review and meta-analysis for the diagnostic accuracy of in vivo lesion characterization in colonic inflammatory bowel disease (IBD), using optical imaging techniques, including virtual chromoendoscopy (VCE), dye-based chromoendoscopy (DBC), magnification endoscopy and confocal laser endomicr...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.3748/wjg.v24.i10.1167
更新日期:2018-03-14 00:00:00
abstract:AIM:To study the clinical outcome of antiviral therapy in hepatitis B-related decompensated cirrhotic patients. METHODS:Three hundred and twelve patients with decompensated hepatitis B cirrhosis were evaluated in a prospective cohort. With two years of follow-up, 198 patients in the group receiving antiviral therapy w...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v19.i45.8373
更新日期:2013-12-07 00:00:00
abstract:AIM:To investigate the mechanisms of chloride intracellular channel 1 (CLIC1) in the metastasis of colon cancer under hypoxia-reoxygenation (H-R) conditions. METHODS:Fluorescent probes were used to detect reactive oxygen species (ROS) in LOVO cells. Wound healing assay and transwell assay were performed to examine the...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v20.i8.2071
更新日期:2014-02-28 00:00:00
abstract::Helicobacter pylori (H. pylori) is a prevalent, worldwide, chronic infection. Choice of treatment can be modified according to antibiotic-resistance rates of H. pylori. The ideal therapeutic regimen for H. pylori infection should achieve an eradication rate of ≥ 80%. In some countries, triple therapy with a proton-pum...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i18.5302
更新日期:2014-05-14 00:00:00
abstract:AIM:To evaluate the potential use of colonoscopy and endoluminal ultrasonic biomicroscopy (eUBM) to track the progression of mouse colonic lesions. METHODS:Ten mice were treated with a single azoxymethane intraperitoneal injection (week 1) followed by seven days of a dextran sulfate sodium treatment in their drinking ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v19.i44.8056
更新日期:2013-11-28 00:00:00
abstract:AIM:To compare the clinical outcomes between jejunal interposition reconstruction and Roux-en-Y anastomosis after total gastrostomy in patients with gastric cancer. METHODS:A systematic literature search was conducted by two independent researchers on PubMed, EMBASE, the Cochrane Library, Google Scholar, and other Eng...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.3748/wjg.v21.i10.3093
更新日期:2015-03-14 00:00:00
abstract::AIM:To explore the status of extrahepatic hepatitis C virus (HCV) infection and replication in hepatitis C patients,and its potential implication in HCV infection and pathogenicity.METHODS:By reverse-transcriptase poly-merase chain reaction (RT-PCR),in situ hybridization (ISH) and immunohis-tochemistry, HCV RNA, HCV r...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v6.i6.805
更新日期:2000-12-01 00:00:00
abstract::The importance of the safety of healthy living liver donors is widely recognized during donor hepatectomy which is associated with blood loss, transfusion, and subsequent post-operative morbidity. Although the low central venous pressure (CVP) technique can still be effective, it may not be advantageous concerning the...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v21.i45.12757
更新日期:2015-12-07 00:00:00
abstract:AIM:To investigate a suitable long-term culture system and optimal cryopreservation of intestinal organoid to improve organoid-based therapy by acquiring large numbers of cells. METHODS:Crypts were isolated from jejunum of C57BL/6 mouse. Two hundred crypts were cultured in organoid medium with either epidermal growth ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v23.i6.964
更新日期:2017-02-14 00:00:00
abstract::AIM:To study the relationship between insulin A chain regions and insulin biological activities, we designed a series of insulin analogues with changes at A21, A12-18 of C terminal helical region and A8-10 located in the region of A6-A11 intra-chain disulphide bond.METHODS:Insulin A-chain analogues were prepared by st...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v6.i3.371
更新日期:2000-06-01 00:00:00
abstract::Human intestinal microbiota create a complex polymicrobial ecology. This is characterised by its high population density, wide diversity and complexity of interaction. Any dysbalance of this complex intestinal microbiome, both qualitative and quantitative, might have serious health consequence for a macro-organism, in...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v16.i24.2978
更新日期:2010-06-28 00:00:00
abstract::Despite advances in the management of patients with locally advanced, non-metastatic rectal adenocarcinoma (LARC), prognosis remains largely unsatisfactory due to a high rate of distant relapse. In fact, currently available neoadjuvant protocols, represented by fluoropyrimidine-based chemo-radiotherapy (CT-RT) or shor...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i20.6081
更新日期:2014-05-28 00:00:00
abstract::Intense abdominal pain is a prominent feature of chronic pancreatitis and its treatment remains a major clinical challenge. Basic studies of pancreatic nerves and experimental human pain research have provided evidence that pain processing is abnormal in these patients and in many cases resembles that seen in neuropat...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v19.i42.7292
更新日期:2013-11-14 00:00:00