Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0010
Mesut Akarsu, Suleyman Dolu, Murat Harputluoglu, Sezai Yilmaz, Murat Akyildiz, Genco Gencdal, Kamil Yalcin Polat, Dinc Dincer, Haydar Adanir, Ilker Turan, Fulya Gunsar, Zeki Karasu, Hale Gokcan, Sedat Karademir, Gokhan Kabacam, Meral Akdogan Kayhan, Murat Kiyici, Murat Taner Gulsen, Yasemin Balaban, Ahmet Bulent Dogrul, Ali Senkaya, Zeynep Melekoglu Ellik, Fatih Eren, Ramazan Idilman
{"title":"Changing trends in the etiology of liver transplantation in Turkiye: A multicenter study.","authors":"Mesut Akarsu, Suleyman Dolu, Murat Harputluoglu, Sezai Yilmaz, Murat Akyildiz, Genco Gencdal, Kamil Yalcin Polat, Dinc Dincer, Haydar Adanir, Ilker Turan, Fulya Gunsar, Zeki Karasu, Hale Gokcan, Sedat Karademir, Gokhan Kabacam, Meral Akdogan Kayhan, Murat Kiyici, Murat Taner Gulsen, Yasemin Balaban, Ahmet Bulent Dogrul, Ali Senkaya, Zeynep Melekoglu Ellik, Fatih Eren, Ramazan Idilman","doi":"10.14744/hf.2023.2023.0010","DOIUrl":"10.14744/hf.2023.2023.0010","url":null,"abstract":"<p><strong>Background and aim: </strong>This study aimed to identify the indications for liver transplantation (LT) based on underlying etiology and to characterize the patients who underwent LT.</p><p><strong>Materials and methods: </strong>We conducted a multicenter cross-sectional observational study across 11 tertiary centers in Turkiye from 2010 to 2020. The study included 5,080 adult patients.</p><p><strong>Results: </strong>The mean age of patients was 50.3±15.2 years, with a predominance of female patients (70%). Chronic viral hepatitis (46%) was the leading etiological factor, with Hepatitis B virus infection at 35%, followed by cryptogenic cirrhosis (24%), Hepatitis C virus infection (8%), and alcohol-related liver disease (ALD) (6%). Post-2015, there was a significant increase in both the number of liver transplants and the proportion of living donor liver transplants (p<0.001). A comparative analysis of patient characteristics before and after 2015 showed a significant decline in viral hepatitis-related LT (p<0.001), whereas fatty liver disease-related LT significantly increased (p<0.001).</p><p><strong>Conclusion: </strong>Chronic viral hepatitis continues to be the primary indication for LT in Turkiye. However, the proportions of non-alcoholic fatty liver disease (NAFLD) and ALD-related LT have seen an upward trend over the years.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571354","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}
Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0052
Methiye Mancak, Dudu Altintas, Yasemin Balaban, Ufuk Koca Caliskan
{"title":"Evidence-based herbal treatments in liver diseases.","authors":"Methiye Mancak, Dudu Altintas, Yasemin Balaban, Ufuk Koca Caliskan","doi":"10.14744/hf.2022.2022.0052","DOIUrl":"10.14744/hf.2022.2022.0052","url":null,"abstract":"<p><p>The liver is the main organ for metabolic and detoxification reactions in the body. Therefore, its diseases can be associated with both metabolic disorders, such as insulin resistance, obesity, diabetes, or dyslipidemia, and exogenous insults such as drugs, xenobiotics, or alcohol. Indeed, lifestyle changes are the primary approaches for the prevention and treatment of liver diseases. Since ancient times, herbals have also been used for preventive and therapeutic purposes, because of their anti-apoptotic, anti-inflammatory, and antioxidant effects. Here, the literature was reviewed for potential therapeutic effects of plants and their compounds by including <i>in vitro</i> and <i>in vivo</i> studies, as well as clinical trials. Although the available data imply some beneficial roles of herbals on the liver, the indications and posology of specific plants need to be clarified through multicenter, randomized clinical trials.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571376","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}
Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0045
Lubna Kamani, Adeel Rahat, Yusuf Yilmaz
{"title":"Addressing the looming epidemic of metabolic dysfunction-associated steatotic liver disease in Pakistan: A call for action.","authors":"Lubna Kamani, Adeel Rahat, Yusuf Yilmaz","doi":"10.14744/hf.2023.2023.0045","DOIUrl":"10.14744/hf.2023.2023.0045","url":null,"abstract":"","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571233","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}
Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0003
Shahinul Alam, Pallab Kumar Datta, Mahabubul Alam, Mohammad Jahid Hasan
{"title":"Effect of probiotics supplementation on liver stiffness and steatosis in patients with NAFLD.","authors":"Shahinul Alam, Pallab Kumar Datta, Mahabubul Alam, Mohammad Jahid Hasan","doi":"10.14744/hf.2022.2022.0003","DOIUrl":"10.14744/hf.2022.2022.0003","url":null,"abstract":"<p><strong>Background and aim: </strong>To compare the effects of probiotics on liver stiffness and steatosis in obese and non-obese patients with nonalcoholic fatty liver disease (NAFLD),the pragmatic clinical trial included 50 obese body mass index (BMI) ≥25 kg/m<sup>2</sup> and 50 non-obese NAFLD BMI <25 kg/m<sup>2</sup> age and sex-matched patients.</p><p><strong>Materials and methods: </strong>Fibroscan with controlled attenuated parameter (CAP) was done at day 0 and at the end of 6 months. Probiotics supplementation was provided for both groups for 6 months along with lifestyle modifications.</p><p><strong>Results: </strong>At inclusion, both groups had comparable characteristics except BMI, metabolic syndrome and waist circumference (WC). Beneficial changes occurred in BMI (p=0.024), WC (p=0.045), ALT (p=0.024), total cholesterol (p=0.016), LDL (p=0.025) and triglyceride (p=0.021) of obese group, systolic blood pressure (p=0.003) and LDL level (p=0.018) in non-obese group. No significant change was observed in liver enzymes and glycemic profiles. Significant improvement in CAP was observed in both groups. But after adjusting for changes in BMI and WC, the change in CAP among non-obese participants were significantly higher compared to obese, mean change of 19.33±48.87 and 16.02±51.58 dB/m in non-obese and obese patients, respectively; p=0.044).</p><p><strong>Conclusion: </strong>Probiotics improve CAP/ steatosis in both obese and non-obese NAFLD patients and improvement was higher in non-obese, irrespective of BMI change.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571372","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}
Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0035
Yavuz Ozden, Sebnem Gursoy
{"title":"From hepatomegaly to POEMS syndrome: A case report.","authors":"Yavuz Ozden, Sebnem Gursoy","doi":"10.14744/hf.2022.2022.0035","DOIUrl":"10.14744/hf.2022.2022.0035","url":null,"abstract":"<p><p>We present a case of POEMS syndrome from Turkiye, a rare, multisystemic condition resulting from plasma cell dyscrasia. POEMS is an acronym representing its cardinal features: Peripheral neuropathy; Organomegaly; Endocrinopathy; Monoclonal plasma-cell proliferative disorder; and Skin changes. The syndrome has an estimated prevalence of 0.3 per 100,000 individuals and typically manifests in the fifth or sixth decade of life. Progressive peripheral neuropathy is the syndrome's most prominent symptom. To ensure an accurate diagnosis, a thorough medical history, physical examination, and comprehensive diagnostic evaluations are essential. These evaluations should include serum immunoelectrophoresis, serum cytokines, and growth factors, a skeletal survey, and a bone marrow biopsy. Early recognition and treatment of POEMS syndrome are crucial to prevent debilitating progression and to optimize clinical outcomes.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571379","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}
Hepatology ForumPub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0021
Nisanur Sariyar, Haluk Tarik Kani, Cigdem Ataizi Celikel, Yusuf Yilmaz
{"title":"Predicting fibrosis progression in non-alcoholic fatty liver disease patients using the FAST Score: A paired biopsy study.","authors":"Nisanur Sariyar, Haluk Tarik Kani, Cigdem Ataizi Celikel, Yusuf Yilmaz","doi":"10.14744/hf.2023.2023.0021","DOIUrl":"10.14744/hf.2023.2023.0021","url":null,"abstract":"<p><strong>Background and aim: </strong>This study aimed to investigate the predictive value of various non-invasive scores for identifying the progression of hepatic fibrosis over time in patients with Non-Alcoholic Fatty Liver Disease (NAFLD).</p><p><strong>Materials and methods: </strong>We examined 69 patients with NAFLD who had undergone two liver biopsies at an average interval of 21.3±9.7 months. Progression and regression of fibrosis were defined as an increase or decrease of at least one stage in fibrosis between the initial and follow-up biopsies, respectively. The Fibrosis-4 Index (FIB-4), NAFLD Fibrosis Score (NFS), Agile 3+, Agile 4, and FibroScan-AST (FAST) scores were calculated at the initial biopsy.</p><p><strong>Results: </strong>Comparison of paired biopsies revealed that 45% of participants (n=31) exhibited no change in fibrosis stages, 26% (n=18) experienced progression, and 29% (n=20) demonstrated regression. Multivariable logistic regression analysis identified the FAST score as the only independent predictor of progressive fibrosis, with the odds increasing by 19% (95% CI: 8-38%, p<0.05) for each unit increase in the FAST score at the initial biopsy. No independent predictors for fibrosis regression were identified.</p><p><strong>Conclusion: </strong>Higher baseline FAST scores were associated with an increased likelihood of fibrosis progression, independent of other variables. Thus, the FAST score could serve as both a diagnostic and prognostic tool for fibrosis in patients with NAFLD.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86752815","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}
Hepatology ForumPub Date : 2023-12-07eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0027
Ayse Yazan Arslan, Sultannur Celik, Fatuhulah Amin, Ilayda Caylak, Irem Kesapli, Ibrahim Berke Kilic, Serdar Karakullukcu, Cuneyt Ardic, Yusuf Yilmaz
{"title":"Prevalence, determinants, and fibrosis risk stratification of metabolic-associated fatty liver disease in a Turkish primary care setting: A retrospective study.","authors":"Ayse Yazan Arslan, Sultannur Celik, Fatuhulah Amin, Ilayda Caylak, Irem Kesapli, Ibrahim Berke Kilic, Serdar Karakullukcu, Cuneyt Ardic, Yusuf Yilmaz","doi":"10.14744/hf.2023.2023.0027","DOIUrl":"10.14744/hf.2023.2023.0027","url":null,"abstract":"<p><strong>Background and aim: </strong>Metabolic-associated fatty liver disease (MAFLD) is a condition that frequently goes unnoticed as it typically remains asymptomatic until progressing to an advanced stage. As a result, it is essential to implement opportunistic screening initiatives within family medicine practices to accurately identify and refer selected at-risk patients to specialized care. This study aims to investigate the prevalence of MAFLD and advanced hepatic fibrosis among primary care patients in Turkiye by utilizing non-invasive tests.</p><p><strong>Materials and methods: </strong>We performed a retrospective analysis of prospectively collected data from February 1, 2022, to April 14, 2023, at a Family Medicine Outpatient Clinic. The Hepatic Steatosis Index (HSI) was used to identify fatty liver cases, followed by established MAFLD criteria for diagnosis. Patients were then categorized based on advanced fibrosis risk using the fibrosis-4 (FIB-4) index.</p><p><strong>Results: </strong>Among the 450 patients who sought primary care during the study period (286 women and 164 men; mean age: 48.2±13.7 years), 295 (65.6%) were diagnosed with MAFLD using HSI values and established criteria. Diabetes mellitus emerged as the sole independent predictor of MAFLD. FIB-4 values classified 242 (82%) and 53 (18%) patients with MAFLD at low and intermediate risk of advanced fibrosis, respectively, with none at high risk.</p><p><strong>Conclusion: </strong>MAFLD exhibits a notable prevalence among Turkish patients who presented at a Family Medicine Outpatient Clinic. Given the growing impact of metabolic diseases, primary care providers and non-liver specialists should actively participate in MAFLD screening programs.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10936118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76597184","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}
Hepatology ForumPub Date : 2023-12-07eCollection Date: 2024-01-01DOI: 10.14744/hf.2023.2023.0018
Eren Sahin, Ali Dag, Fatih Eren
{"title":"The pleiotropic approach to coronavirus disease-19 pathogenesis: The impact of liver diseases associated host genetic variants.","authors":"Eren Sahin, Ali Dag, Fatih Eren","doi":"10.14744/hf.2023.2023.0018","DOIUrl":"10.14744/hf.2023.2023.0018","url":null,"abstract":"<p><p>Coronavirus disease-2019 (COVID-19) is a novel multisystemic viral disease caused pandemic. The disease impact involves liver and associated systems. Undoubtedly, host genetic background influences the predisposition and prediction of infection. Variants among human populations might increase susceptibility or protect against severe outcomes. In this manner, rs738409 variant of patatin-like phospholipase domain-containing protein 3 gene appears to be protective in some populations in spite of its aggravating effect on non-alcoholic fatty liver diseases (NAFLDs) and steatohepatitis. DRB1*15:01 allele of human leukocyte antigen is associated with protective effect in European and Japanese populations. DRB1*03:01 contrarily increases the susceptibility of severe COVID-19 infection in European populations. rs1260326 in glucokinase regulatory protein gene, rs112875651 in tribbles homolog 1 gene, rs429358 in apolipoprotein 1, and rs58542926 in transmembrane 6 superfamily 2 alleles are found related with NAFLD and obesity; thus, hypercoagulability and severe COVID-19 outcomes. In chronic or acute liver diseases, comorbid syndromes are the key factors to explain increased severity. There might not be a direct association between the variant and severe COVID-19 infection. As it is concluded, there are genes and variants known and unknown yet to be studied to reveal the association with disease severity.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10936119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132736","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}
Hepatology ForumPub Date : 2023-12-07eCollection Date: 2024-01-01DOI: 10.14744/hf.2022.2022.0032
Hussam Bukhari, Andre Mattman, Gordon Ritchie, Laura Burns, Eric Yoshida, David Schaeffer, Hui-Min Yang
{"title":"Molecular confirmation of alpha 1-antitrypsin deficiency in liver transplant setting: A province-wide experience.","authors":"Hussam Bukhari, Andre Mattman, Gordon Ritchie, Laura Burns, Eric Yoshida, David Schaeffer, Hui-Min Yang","doi":"10.14744/hf.2022.2022.0032","DOIUrl":"10.14744/hf.2022.2022.0032","url":null,"abstract":"<p><strong>Background and aim: </strong>Patients suspected of Alpha 1-Antitrypsin (A1AT) abnormality based on low serum concentration are routinely confirmed through polymerase chain reaction (PCR) testing of peripheral blood. Genotyping formalin-fixed paraffin-embedded (FFPE) tissue is a novel approach that could aid in detecting variant A1AT. We performed qPCR on FFPE liver explants with Periodic Acid Schiff after Diastase (PASD)- and A1AT-positive globules to confirm and estimate the frequency of A1AT deficiency in transplant cases.</p><p><strong>Materials and methods: </strong>Eighteen (12.68%) of 142 patients with end-stage liver disease showed PASD/A1AT positive globules. FFPE of the explants was tested through qPCR to detect S and Z alleles. A second age- and sex-matched control group consisting of five liver transplant patients with negative globules was included in the study.</p><p><strong>Results: </strong>qPCR assay was successful with all the samples meeting QC parameters. All patients included in the study elucidated Z allele variants; 2 homozygous (11.1%) and 16 heterozygous (88.9%). The control group demonstrated normal wild-type MM allele.</p><p><strong>Conclusion: </strong>Screening for A1AT deficiency using serum levels is not sufficiently sensitive to detect deficiency, especially in carriers. If A1AT testing was not performed preoperatively and the risk is high based on the PASD/A1AT-positive globules in the explants, then molecular testing of FFPE tissue can be a viable method for confirming the diagnosis.</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10936117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132734","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}
Hepatology ForumPub Date : 2023-09-20eCollection Date: 2023-01-01DOI: 10.14744/hf.2023.2023.0008
Mohammad Fawad Khattak, Sam Thomson
{"title":"Recurrent early-onset severe obstetric cholestasis in a patient with two variants in the ABCB4 gene.","authors":"Mohammad Fawad Khattak, Sam Thomson","doi":"10.14744/hf.2023.2023.0008","DOIUrl":"10.14744/hf.2023.2023.0008","url":null,"abstract":"<p><p>A 36-year-old patient presented with severe early-onset obstetric cholestasis on a background of having pre-term induction of labor at 33 weeks during her only previous pregnancy. The patient had significantly abnormal liver biochemistry with a bilirubin of 78 µmol/L, ALP of 318 u/L, ALT of 280 µmol/L, and bile acid levels of 420 µmol/L. The patient received ursodeoxycholic acid 750 mg 3 times a day, rifampicin 500 mg twice a day, aspirin 150 mg once a day, and metformin 500 mg 3 times a day. However, despite this, the patient still suffered from intractable pruritus and her bile acid level was still above the 100 µmol/L target that the obstetrics team was aiming for to avoid early delivery at 32 weeks. Due to the nature and severity of her cholestasis, the patient had a number of investigations done postnatally including genetic analysis, which confirmed that the patient was heterozygous for a pathogenic variant of the ATP-binding cassette subfamily B member 4 gene (c.959C>T [p.Ser320Phe]) and also a variant of unknown significance (c.1679C>T [p.Thr560Met]).</p>","PeriodicalId":29722,"journal":{"name":"Hepatology Forum","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/68/hf-4-142.PMC10564254.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41214616","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}