Frontiers in gastroenterology (Lausanne, Switzerland)最新文献

{"title":"Evaluating bowel preparation tolerability in IBD: a phase 3 <i>post-hoc</i> comparison of mannitol and PEG-ASC.","authors":"Gian Eugenio Tontini, Alessandro Rimondi, Flavio Caprioli, Giovanni Aldinio, Luca Pastorelli, Franco Radaelli, Cristiano Spada, Maurizio Vecchi","doi":"10.3389/fgstr.2025.1630479","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1630479","url":null,"abstract":"<p><p>Bowel preparation is a significant challenge for patients undergoing colonoscopy, especially in Inflammatory Bowel Disease (IBD) patients. Oral mannitol (OM), an ultra-low-volume, single-dose osmotic laxative with a sweet taste, could improve patient tolerability. We performed a <i>post-hoc</i> analysis of the phase 3, multicentre, randomized, endoscopist-blinded SATISFACTION trial to compare same-day OM versus standard split-dose 2L polyethylene glycol plus ascorbate (PEG-ASC) for bowel preparation in IBD patients. Fifty-five IBD patients (24 OM, 31 PEG-ASC) were assessed for bowel cleansing efficacy, endoscopic outcomes, safety, and patient satisfaction. OM demonstrated superior tolerability, including ease of use (88% <i>vs</i>. 71%), taste satisfaction (75% <i>vs</i>. 6%), and willingness to reuse (96% <i>vs</i>. 71%). OM also reduced intake duration (32 <i>vs</i>. 107 minutes) and time to evacuation (57 <i>vs</i>. 91 minutes), with comparable efficacy, cleansing quality, and safety. In conclusion, same-day OM preparation enhances satisfaction and adherence in IBD patients, offering a safe, effective alternative to standard protocols.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1630479"},"PeriodicalIF":0.0,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Rapid resolution of fever after initiation of third-line rescue treatment with upadacitinib for acute severe ulcerative colitis in two young men.","authors":"Dan Pinzaru, Martin Kreysing, Tony Lesmeister, Miriam Schwandner, Patrick Michl, Annika Gauss","doi":"10.3389/fgstr.2025.1626455","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1626455","url":null,"abstract":"<p><strong>Introduction: </strong>Acute severe ulcerative colitis (ASUC) is a life-threatening condition in patients with ulcerative colitis with overwhelming systemic inflammation. In case of steroid-refractory courses, the mainstay of therapy is currently infliximab or a calcineurin inhibitor, weighed against colectomy. Recently, Janus kinase (JAK) inhibitors have been shown to result in rapid and persistent responses even in steroid-refractory patients, so that their position in the therapeutic algorithm of ASUC has to be determined. We present-to our best knowledge, for the first time-two cases in which upadacitinib was administered as a third-line rescue therapy in steroid- and infliximab-refractory patients with persistent fever.</p><p><strong>Case presentations: </strong>A 33- and a 28-year-old man, both newly diagnosed with ulcerative pancolitis, presented with steroid-refractory courses of ASUC. Both suffered from fever with temperatures of >39°C in spite of empirical antibiotic therapy, and infection was carefully excluded. In both, infliximab at 5 mg/kg body weight failed to resolve the fever, and second salvage therapy with upadacitinib 45 mg led to swift resolution of the fever and to overall clinical response. Both patients were under ongoing upadacitinib treatment, and in outpatient surveillance, one of them in steroid-free clinical remission up to his last follow-up one year post treatment initiation, the other one up to his last follow-up four months post treatment initiation.</p><p><strong>Conclusion: </strong>Upadacitinib seems to be a valuable option even as a second salvage therapy in ASUC. Randomized controlled trials are warranted. However, it has to be kept in mind that ASUC, especially with septic symptoms such as fever, remains a life-threatening condition in which surgery always has to be evaluated, and that multiple overlapping immunosuppressive therapies may cause severe complications, such as infections.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1626455"},"PeriodicalIF":0.0,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Living with a transplanted liver is associated with cytopenias: a nationwide cohort study.","authors":"Kajinth Manogarathaas, Nicoline S Arentoft, Jens G Hillingsø, Anne Marie R Jensen, Annette D Fialla, Gerda E Villadsen, Peter Holland-Fischer, Shoaib Afzal, Børge G Nordestgaard, Peter Brown, Allan Rasmussen, Susanne D Nielsen","doi":"10.3389/fgstr.2025.1543618","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1543618","url":null,"abstract":"<p><p>Hematological abnormalities are common in liver transplant recipients, but evidence beyond the first-year post-transplantation is scarce. We aimed to evaluate hematological abnormalities in liver transplant recipients beyond the first-year post-transplantation. We included 437 liver transplant recipients and 1,744 age- and sex-matched controls from the general population. Odds for cytopenias were assessed using logistic regression analyses adjusted for age, sex, ethnicity, hs-CRP, smoking, and alcohol use. Potential transplant-related risk factors were assessed in liver transplant recipients only. The median time since transplantation was 7.8 years, and 47% had autoimmune liver disease as the indication for transplantation. Compared to controls, liver transplant recipients had a higher prevalence of anemia (24.5% vs. 3.5%), neutropenia (2.1% vs. 0.1%), lymphocytopenia (18.4% vs. 1.5%), and thrombocytopenia (19.2% vs. 2.2%). Living with a transplanted liver was independently associated with higher odds of anemia (aOR, 7.84 [95% CI: 5.04 - 12.18], <i>p</i><0.001), lymphocytopenia (aOR 16.69 [95% CI: 9.56 - 29.12], <i>p</i><0.001), and thrombocytopenia (aOR 10.19 [95% CI: 6.07 - 17.13], <i>p</i><0.001). No association was found between cytopenias, specific types of immunosuppressive treatments, or cirrhosis at transplantation. In conclusion, hematological abnormalities are common in liver transplant recipients, even several years post-transplantation, and increased attention towards cytopenia in this population is warranted.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1543618"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recipient warm ischemic time negatively influences biliary complications and graft survival - a single center retrospective analysis.","authors":"Sophie Reichelt, Alexander Semaan, Philipp Lutz, Jörg C Kalff, Cornelius J van Beekum, Steffen Manekeller","doi":"10.3389/fgstr.2025.1601741","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1601741","url":null,"abstract":"<p><p>Recipient warm ischemia time (rWIT) in liver transplantation (LT) - which is defined as the time from removal of the graft from cold storage until reperfusion with portal and/or arterial blood flow - has been linked to negative outcomes. Biliary complications, particularly biliary strictures, are a major cause of morbidity after LT. However, the relationship between rWIT in donation after brain death (DBD) LT and biliary strictures has not been well explored. This single-center study retrospectively analyzed data from 162 DBD-LT recipients (2013-2022). Patients were divided into two groups: rWIT ≤30 minutes (n=33) and rWIT >30 minutes (n=129). Livers did not undergo any <i>in situ</i> or <i>ex situ</i> machine perfusion techniques. Biliary complications occurred at similar rates in both groups (p=0.5). Biliary strictures tended to be more common in the rWIT >30 minutes group, although without statistical significance (40% vs. 24%; p=0.1). The median serum bilirubin levels on day 5 were significantly higher in the rWIT >30-minute group (5.2 (IQR 2.6, 8.9) mg/dl vs. 3.7 (IQR 1.9, 5.9) mg/dl; p=0.013). Patients with rWIT >30 minutes required significantly more blood transfusions intraoperatively (p=0.021). There was a high tendency for higher severe complication rates in the rWIT >30-minute group, which was not significant (58% vs. 39%; p=0.054). Prolonged rWIT in LT was associated with a trend toward a higher incidence of bile duct strictures and elevated liver enzymes. However, due to the retrospective design and risk of selection bias, rWIT should be interpreted as one of several contributing factors. Our findings suggest that minimizing rWIT may support better outcomes, but causality cannot be definitively established.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1601741"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: <i>Sarcina ventriculi</i>, a masquerade of motility.","authors":"Katherine Westbrook Cates, Catherine Hudson","doi":"10.3389/fgstr.2025.1607667","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1607667","url":null,"abstract":"<p><p><i>Sarcina ventriculi</i> is a rare bacterium that has the potential to cause severe disease in the gastric mucosa. According to our search, there are less than 100 prior published case reports. This case discusses a 69-year-old man who presented to the hospital with severe gastric distention noted on CT of the abdomen with intractable nausea and emesis, for which endoscopy was performed and ruled out gastric outlet obstruction, with biopsies resulting as <i>S. ventriculi</i>. This bacterium has previously been reported to cause gastric dysmotility, as well as severe side effects including gastric perforation.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1607667"},"PeriodicalIF":0.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastrointestinal endoscopy for intestinal dysplasia and neoplasia detection and management in Crohn's disease: when and how?","authors":"Tommaso Pessarelli, Alessandra Piagnani, Gian Eugenio Tontini, Irene Maria Bambina Bergna, Arnaldo Amato","doi":"10.3389/fgstr.2025.1626610","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1626610","url":null,"abstract":"<p><p>Patients with long-standing inflammatory bowel disease (IBD) involving the colon have an approximately 2-3-fold risk of colorectal cancer (CRC), which remains a leading cause of mortality in this population. However, data specifically assessing CRC incidence in Crohn's disease (CD) are limited, and these patients also face an increased risk of small bowel cancer (SBC). Endoscopy plays a central role in CRC prevention, as well as in the detection and management of dysplasia and early CRC in CD. This review summarizes current evidence on the role of lower gastrointestinal endoscopy, as well as small bowel capsule endoscopy and device assisted enteroscopy, in this context. It provides practical guidance on the optimal use of these endoscopic techniques, considering patient- and disease-specific factors. Additionally, it highlights emerging endoscopic technologies and future perspectives in the field.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1626610"},"PeriodicalIF":0.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Curcumin-QingDai combination for patients with active Crohn's disease: a retrospective, real-world multicenter cohort study.","authors":"Nir Salomon, Maayan Marom, Safwat Odeh, Madlen Molnar, Ariella Bar-Gil Shitrit, Omri Nayshool, Bella Ungar, Shomron Ben-Horin, Tova Rainis","doi":"10.3389/fgstr.2025.1602541","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1602541","url":null,"abstract":"<p><strong>Background: </strong>The combination of curcumin and QingDai (CurQD) promotes aryl hydrocarbon receptor (AhR) activation and is effective in ulcerative colitis; however, its benefit in Crohn's disease (CD) has not been studied.</p><p><strong>Methods: </strong>This is a retrospective, multicenter cohort study of patients who received CurQD for active CD, defined as the two-item patient-reported outcome (PRO2) stool frequency (SF) ≥ 2 and abdominal pain (AP) ≥ 1. The primary endpoint was the rate of clinical remission at the end of induction (weeks 8-12), defined by a PRO2 SF ≤ 1 and an AP = 0. The secondary endpoints included biomarker response [fecal calprotectin (FCP) drop ≥50% in a patient with FCP >250 μg/g at baseline] and remission (FCP drop ≥50% and FCP < 250 μg/g at the end of induction) and CurQD retention. Exploratory analysis of the public domain Genotype-Tissue Expression (GTEx) dataset was performed to elucidate the mRNA expression of AhR along the gut axis.</p><p><strong>Results: </strong>A total of 30 patients were identified for the safety dataset (13/30, 43% bio-experienced), and 25 were eligible for inclusion in the efficacy analysis. Clinical PRO2 remission at the end of induction was achieved in 12/25 (48%) patients and clinical response in 19/25 (76%), with an overall reduction in the median PRO2 score from 15 (95%CI = 13-19.7) to 4 (95%CI = 2-8.7, <i>p</i> < 0.001). Biomarker remission and response were observed in 11/20 (55%) and 15/20 (75%) patients, respectively, with baseline FCP > 250 μg/g, with an overall reduction in the median FCP from a baseline 639 μg/g (95%CI = 128-5480) to 138 μg/g (95%CI = 5-1470, <i>p</i> = 0.001). Biomarker remission was observed in 8/11 (73%) patients with colonic-involving L2/L3 disease <i>versus</i> 3/9 (33%) L1 extent (OR = 4.5, 95%CI = 0.8-24, <i>p</i> = 0.08). After 8 months' median follow-up (range = 2-26 months), 16/19 (84%) responding patients were still taking CurQD. Three patients experienced headaches, and three had abdominal pain/diarrhea. Two of the six stopped CurQD due to these symptoms. One patient had elevated liver transaminases three times the upper limit of normal, which resolved upon halving the CurQD dose. In the public domain GTEx dataset, the mRNA expression of the target AhR in the colon <i>versus</i> the small intestinal mucosa was comparable, thereby not supporting differential AhR expression as a cause for a possible higher efficacy of CurQD in the colon.</p><p><strong>Conclusion: </strong>In this first-reported real-world experience, the AhR agonist CurQD was effective in inducing and maintaining the clinical and biomarker response and remission in over 50% of patients with CD, including in biologic-experienced patients.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1602541"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proteomic profile of human colon organoids: effects of a multi-mineral intervention alone and in the presence of pro-inflammatory and anti-inflammatory treatments.","authors":"Muhammad Nadeem Aslam, Shannon D McClintock, Gillian Moraga, Daniyal M Nadeem, Isabelle Harber, James Varani","doi":"10.3389/fgstr.2025.1592669","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1592669","url":null,"abstract":"<p><strong>Introduction: </strong>Aquamin, a multi-mineral product derived from fossilized red marine algae, has been shown to improve colon barrier structure and function. Mesalamine is commonly used as maintenance therapy for patients with mild-to-moderate ulcerative colitis (UC) or those in remission. Our long-term aim is to evaluate if Aquamin can be part of a UC maintenance regimen, examining potential complementary efficacy or synergy with Mesalamine, as well as any possible drug interactions.</p><p><strong>Methods: </strong>Human colon organoids were maintained under controlled conditions or exposed to a pro-inflammatory stimulus to mimic the environment in mild-to-moderate UC. Organoids were treated with Aquamin alone, Mesalamine alone, or the two agents in combination for 14 days. At the end of the treatment period, proteomic analysis was conducted to evaluate protein changes induced by the two agents (individually and in combination).</p><p><strong>Results: </strong>Colon organoids treated with Aquamin or Mesalamine exhibited distinct protein expression profiles. Aquamin enhanced the expression of colon barrier proteins (e.g., cadherin-17 and desmoglein-2). Mesalamine by itself had minimal impact on these moieties; when present with Aquamin, it did not alter Aquamin's response. By itself, treatment with Mesalamine alone resulted in up-regulation of basement membrane proteins; the combination of Aquamin and Mesalamine was more effective than either alone. In contrast to these results, Mesalamine up-regulated numerous proteins directly related to inflammation including members of the complement and clotting/fibrinolytic cascades. These were down-regulated with Aquamin. When the two agents were utilized in combination, changes in the expression of inflammation-related proteins resembled the profile seen with Mesalamine alone more than the profile obtained with Aquamin. Of interest, the presence of a pro-inflammatory stimulus further highlighted the unique responses to the two interventions, with Mesalamine aligning more closely with the pro-inflammatory stimulus in its effect on the expression of inflammation-associated proteins.</p><p><strong>Conclusion: </strong>The data presented here suggest that the induction of barrier proteins by Aquamin would not be counteracted by the concomitant presence of Mesalamine. The current studies also found no evidence to suggest that the presence of Aquamin would interfere with the capacity of Mesalamine to alter the expression of proteins that are part of the anti-inflammatory shield.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1592669"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning prediction model for lateral lymph node metastasis in rectal cancer.","authors":"Longchun Dong, Shiyong Du, Hongjie Yang, Xipeng Zhang, Zhichun Zhang, Shuan Geng, Yuanda Zhou, Peng Li, Qingsheng Zeng, Yi Sun, Peishi Jiang","doi":"10.3389/fgstr.2025.1598686","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1598686","url":null,"abstract":"<p><strong>Background: </strong>The preoperative diagnosis of lateral lymph node metastasis presents a significant challenge. In this study, we aimed to predict the pathological characteristics of lateral lymph nodes in patients with rectal cancer using preoperative clinical information and to develop a logistic prediction model for lateral lymph node metastasis.</p><p><strong>Methods: </strong>A retrospective analysis of 143 patients who underwent total mesorectal excision (TME) and lateral lymph node dissection (LLND) at Tianjin Union Medical Center, from January 2017 to June 2024 was conducted. Patients were categorized into lateral lymph node metastasis and non-metastasis groups based on postoperative pathological findings. Basic information, tumor markers, and MRI reports were compared. Patients were segmented into training and validation sets at an 8:2 ratio. The R software was used to create a logistic prediction model and a nomogram.</p><p><strong>Results: </strong>This study included 66 pathologically positive and 77 pathologically negative lateral lymph node cases. Extramural vascular invasion (EMVI), MRI clinical N stage (MRI cN stage), and the number of enlarged lateral lymph nodes (NoELLN) were used to construct the logistic prediction model. The model achieved an accuracy of 0.62, sensitivity of 0.80, specificity of 0.43, and area under the curve (AUC) of 0.80 in predicting the pathological characteristics of lateral lymph nodes using the test dataset.</p><p><strong>Conclusion: </strong>EMVI, MRI cN stage, and NoELLN are significant predictive factors for predicting lateral lymph node pathology in patients with rectal cancer. These findings offer guidance for determining patient eligibility for LLND surgery.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1598686"},"PeriodicalIF":0.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant.","authors":"Zhang Huimin, Wang Yuan, Xu Chuanyan, Chen Jing","doi":"10.3389/fgstr.2025.1435168","DOIUrl":"https://doi.org/10.3389/fgstr.2025.1435168","url":null,"abstract":"<p><p>Progressive familial intrahepatic cholestasis (PFIC) is a group of rare autosomal recessive cholestatic liver diseases that typically manifest in infancy or childhood. It is characterized by intrahepatic cholestasis, jaundice, pruritus, and malabsorption, with potential progression to cirrhosis, liver failure, and hepatocellular carcinoma. Here, we report a 36-year-old Chinese male patient with delayed-onset PFIC who presented with recurrent jaundice and pruritus. Laboratory investigations excluded viral, autoimmune, or neoplastic causes of liver injury. Liver biopsy demonstrated hepatocyte hydropic degeneration and intracanalicular bile thrombi, while genetic testing revealed compound heterozygous variants in the MYO5B gene: c.3604-1G>C and c.1165G>T (p.V389F). The patient exhibited fluctuating bilirubin levels refractory to initial therapies including corticosteroids, ursodeoxycholic acid, cholestyramine, and artificial liver support. However, bilirubin normalization was achieved following adjunctive traditional Chinese medicine therapy after transfer to our institution. This case highlights that genetic etiologies, particularly MYO5B-related disorders, should be considered in patients presenting with recurrent hyperbilirubinemia, pruritus, and hepatosplenomegaly after excluding common causes (viral, autoimmune, drug-induced, or tumor-related). Genetic testing for MYO5B mutations is warranted in cases of high bilirubin with normal/mildly elevated GGT levels, as early recognition is critical for timely intervention.</p>","PeriodicalId":73085,"journal":{"name":"Frontiers in gastroenterology (Lausanne, Switzerland)","volume":"4 ","pages":"1435168"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147446222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}