Clinical effect of liver transplantation on hilar cholangiocarcinoma / 国际外科学杂志

Hilar cholangiocarcinoma(HCCA) is a relatively rare disease with great invasiveness. Traditionally, radical resection has been considered the cornerstone of its treatment. However, only less than 40% of cases can be resected. Surgical resection is complex, risky and difficult to achieve R0 resection and may lead to various postoperative complications. In recent years, the combination of neoadjuvant chemoradiotherapy with liver transplantation(LT) has provided an option for patients with unresectable diseases, and strict patient screening criteria has allowed LT protocol to achieve promising therapeutic effects in PCCA. In order to provide an intellectual background for the choice of LT protocol in the clinical treatment of HCCA patients, this article will review the application standards of LT in HCCA, summarize the application status of LT in patients with different resectability, compare the prognostic effect of resection and LT, and introduce the advantages of LT in the treatment of HCCA associated with primary sclerosing cholangitis(PSC).

Urgent liver retransplantation due to transmission of intrahepatic cholangiocarcinoma by donor: the first report in the literature / Retransplante de fígado urgente devido à transmissão de colangiocarcinoma intra-hepático pelo doador: o primeiro relato da literatura

ABSTRACT BACKGROUND: Liver transplantation represents the best therapeutic modality in end-stage chronic liver disease, severe acute hepatitis, and selected cases of liver tumors. AIMS: To describe a double retransplant in a male patient diagnosed with Crohn's disease and complicated with primary sclerosing cholangitis, severe portal hypertension, and cholangiocarcinoma diagnosed in the transplanted liver. METHODS: A 48-year-old male patient diagnosed with Crohn's disease 25 years ago, complicated with primary sclerosing cholangitis and severe portal hypertension. He underwent a liver transplantation in 2018 due to secondary biliary cirrhosis. In 2021, a primary sclerosing cholangitis recurrence was diagnosed and a liver retransplantation was indicated. Recipient's hepatectomy was very difficult by reason of complex portal vein thrombosis requiring extensive thromboendovenectomy. Intraoperative ultrasound with liver doppler evaluation was performed. Two suspicious nodules were incidentally diagnosed in the donor's liver and immediately removed for anatomopathological evaluation. RESULTS: After pathological confirmation of carcinoma, probable cholangiocarcinoma, at frozen section, the patient was re-listed as national priority and a new liver transplantation was performed within 24 hours. The patient was discharged after 2 weeks. CONCLUSIONS: The screening for neoplasms in donated organs should be part of our strict daily diagnostic arsenal. Moreover, we argue that, for the benefit of an adequate diagnosis and the feasibility of a safer procedure, the adoption of imaging tests routine for the liver donor is essential, allowing a reduction of the costs and some potential risks of liver transplant procedure.

RESUMO RACIONAL: O transplante de fígado representa a melhor modalidade terapêutica na doença hepática crônica terminal, hepatite aguda grave e casos selecionados de tumores hepáticos. OBJETIVOS: Descrever um retransplante duplo em paciente do sexo masculino, diagnosticado com doença de Crohn e complicado com colangite esclerosante primária, hipertensão portal grave e colangiocarcinoma diagnosticado no fígado transplantado. MÉTODOS: Paciente do sexo masculino, 48 anos, diagnosticado com doença de Crohn há 25 anos e complicado com colangite esclerosante primária e hipertensão portal grave. Foi submetido a um transplante de fígado em 2018 devido a cirrose biliar secundária. Em 2021, foi diagnosticada recidiva de colangite esclerosante primária e indicado retransplante hepático. A hepatectomia do receptor foi de alta complexidade devido à trombose complexa da veia porta, exigindo extensa tromboendovenectomia. Foi realizada ultrassonografia intraoperatória com doppler hepático. Dois nódulos suspeitos foram diagnosticados incidentalmente no fígado do doador e imediatamente removidos para avaliação anatomopatológica. RESULTADOS: Após confirmação patológica de carcinoma, provável colangiocarcinoma, pela congelação, o paciente foi relistado como prioridade nacional, e novo transplante hepático foi realizado em 24 horas. O paciente teve alta após 2 semanas. CONCLUSÕES: O rastreamento de neoplasias em órgãos doados deve fazer parte de nosso estrito arsenal diagnóstico diário. Além disso, defendemos que, em benefício de um diagnóstico correto e da viabilidade de um procedimento mais seguro, a adoção de uma rotina de exames de imagem é essencial em doadores hepáticos, permitindo a redução dos custos e alguns riscos potenciais do procedimento de transplante hepático.

Research advances in noninvasive diagnosis of liver fibrosis in autoimmune liver diseases / 临床肝胆病杂志

Autoimmune liver diseases （ALD） are a group of chronic inflammatory liver diseases mediated by autoimmune response and can progress to liver fibrosis， liver cirrhosis， and even liver failure. Early diagnosis， early treatment， and dynamic follow-up of liver fibrosis in ALD may help to improve the prognosis of the disease and even reverse early-stage liver cirrhosis. Due to the limitations and potential risks of liver biopsy， the search for noninvasive techniques has become a research hotspot in the field of liver fibrosis. This article reviews the recent research advances in serum markers and imaging techniques for liver fibrosis in ALD and analyzes the advantages and disadvantages of each detection method and their development trends.

Value of serum complement C3 in the diagnosis of liver fibrosis associated with primary biliary cholangitis / 临床肝胆病杂志

‍ ObjectiveTo investigate the value of serum complement C3 level in determining the stage of liver fibrosis in primary biliary cholangitis （PBC）. MethodsClinical data were collected from 108 patients with PBC who attended Tianjin Second People’s Hospital and underwent liver biopsy from January 2012 to October 2022. The degree of liver fibrosis （S0-4） was assessed according to the Scheuer scoring system， with ≥S2 defined as significant liver fibrosis， ≥S3 defined as progressive liver fibrosis， and S4 defined as liver cirrhosis. The independent samples t-test was used for comparison of normally distributed continuous data between two groups， and a one-way analysis of variance was used for comparison between multiple groups； the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups， and the Kruskal-Wallis H test was used for comparison between multiple groups； the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. The area under the ROC curve （AUC） was used to evaluate the efficacy of complement C3 in the diagnosis of liver fibrosis in patients with PBC. The Spearman correlation analysis was used to investigate the correlation between complement C3 and liver fibrosis stage. ResultsAmong the 108 patients with PBC， there were 87 （80.6%） female patients and 102 patients （94.4%） with positive autoantibody. As for the stage of liver fibrosis， there were 5 patients （4.6%） in S0 stage， 41 （38.0%） in S1 stage， 23 （21.3%） in S2 stage， 25 （23.1%） in S3 stage， and 14 （13.0%） in S4 stage. There was a significant difference in the level of complement C3 between the patients with different liver fibrosis stages （H=42.891， P<0.001）. The level of complement C3 gradually decreased with the aggravation of liver fibrosis， with a negative correlation between them （r=-0.565， P<0.001）. Liver stiffness measurement （LSM）， aspartate aminotransferase/alanine aminotransferase ratio， aspartate aminotransferase-to-platelet ratio index， and fibrosis-4 were negatively correlated with complement C3， with a correlation coefficient of -0.439 （P<0.001）， -0.323 （P=0.001）， -0.206 （P=0.033）， and -0.291 （P=0.002）， respectively. The multivariate logistic regression analysis showed that complement C3 level was an independent predictive factor for significant liver fibrosis， progressive liver fibrosis， and liver cirrhosis， while LSM was an independent predictive factor for significant liver fibrosis and progressive liver fibrosis. The ROC curve analysis showed that complement C3 had an AUC of 0.731， 0.832， and 0.968， respectively， in the diagnosis of significant liver fibrosis， progressive liver fibrosis， and liver cirrhosis， with a corresponding cut-off value of 1.445， 1.235， and 1.005， respectively， and complement C3 combined with LSM had an AUC of 0.811， 0.941， and 0.976， respectively， in the diagnosis of significant liver fibrosis， progressive liver fibrosis， and liver cirrhosis. There was a significant difference in AUC between complement C3 combined with LSM and complement C3 alone in the diagnosis of significant liver fibrosis （Z=2.604， P=0.009）， and there was also a significant difference in AUC between complement C3 combined with LSM and complement C3 alone in the diagnosis of progressive liver fibrosis （Z=3.033， P=0.002）； there was no significant difference in AUC between complement C3 combined with LSM and complement C3 alone in the diagnosis of liver cirrhosis （Z=1.050， P=0.294）， while There was a significant difference in AUC between complement C3 combined with LSM and LSM alone in the diagnosis of liver cirrhosis （Z=2.326， P=0.020）. ConclusionSerum complement C3 level has a certain clinical value in assessing the degree of liver fibrosis in patients with PBC， and complement C3 combined with LSM can further improve the efficacy of complement C3 or LSM in the diagnosis of liver fibrosis in PBC.

Colangiopatía post-COVID-19 grave: reporte de 6 casos / Post-COVID-19 severe cholangiopathy: report of 6 cases

RESUMEN La enfermedad por coronavirus de 2019 (COVID-19) es una infección predominantemente del tracto respiratorio con la capacidad de afectar otros órganos. Las alteraciones en las pruebas hepáticas son una manifestación frecuente de la COVID-19 pero suelen ser transitorias. Describimos el curso clínico y los hallazgos más relevantes de 6 pacientes que desarrollaron una colangiopatía tras una COVID-19 grave. La edad promedio de los pacientes, 4 hombres y dos mujeres, fue de 56 años y el tiempo promedio desde el diagnóstico de COVID-19 hasta el diagnóstico de la colangiopatía fue de 138 días. Las características más importantes fueron la elevación de la fosfatasa alcalina y la desestructuración y el arrosariamiento de la vía biliar intrahepática en las imágenes de resonancia magnética. La colangiopatía tras una COVID-19 grave constituye una nueva entidad con características únicas con el potencial para la lesión progresiva biliar y la cirrosis biliar secundaria. Se requieren más estudios para entender esta enfermedad.

ABSTRACT Coronavirus disease 2019 (COVID-19) is a predominantly respiratory tract infection with the capacity to affect other organs. Liver chemistry abnormalities are a frequent manifestation of COVID-19 but are usually transient. We describe the clinical course and most relevant findings of 6 patients who developed a cholangiopathy after severe COVID-19. The mean age of the patients, 4 men and 2 women, was 56 years and the mean time from COVID-19 diagnosis to diagnosis of cholangiopathy was 138 days. The features most important were the increase of alkaline phosphatase and destructuring and beading of the intrahepatic bile duct in magnetic resonance imaging. Cholangiopathy after severe COVID-19 constitutes a novel entity with unique features and potential for progressive biliary injury and secondary biliary cirrhosis. Further studies are required to understand this disease.

Endoscopic treatment and prognosis of primary sclerosing cholangitis / 中华消化内镜杂志

Objective:To investigate the outcome and prognostic factors associated with endoscopic retrograde cholangiopancreatography (ERCP) in patients with primary sclerosing cholangitis (PSC).Methods:PSC patients admitted to Xijing Hospital from May 2009 to May 2020 were included. Data of demographics, clinical symptoms, laboratory and imaging tests, and ERCP consultations were collected to explore the population characteristics and clinical efficacy of ERCP treatment, and to follow up disease progression, transplant-free survival, and overall survival .Results:A total of 74 patients with PSC were included in this study, with a median age of 53 years, 54.1% (40/74) male. Patients combined with bile duct dominant stenosis, inflammatory bowel disease (IBD), and another autoimmune liver disease were 32.4% (24/74), 18.9% (14/74), and 17.6% (13/74), respectively, and those undergoing ERCP were 36.5% (27/74). Logistic regression analysis showed that high total bilirubin ( OR=12.33, 95% CI: 1.24-122.63, P=0.032) and bile duct dominant stenosis ( OR=24.67, 95% CI: 3.40-178.88, P=0.002) were independent high-risk factors for ERCP consultation. The operation and clinical success rates of ERCP were both 96.3% (26/27). As of the last follow-up, the proportions of patients progressing to cirrhosis, bile duct cancer, liver transplantation and death were 9.5% (7/74), 4.1% (3/74), 5.4% (4/74) and 18.9% (14/74), respectively. The five-year survival rate of the follow-up patients ( n=54) was 83.3%. The differences in transplant-free survival ( P=0.933) and overall survival ( P=0.608) between ERCP patients and non-ERCP patients were not statistically significant. Transplant-free survival of those who were companied with pruritus ( HR=5.30, 95% CI: 1.50-18.90, P=0.010) was shorter. Conclusion:PSC patients have higher proportion of IBD and less autoimmune liver disease. Higher proportion of patients with higher total bilirubin or bile duct dominant stenosis receive ERCP. While the short-term efficacy of ERCP is satisfactory, the long-term prognosis is still suboptimal. Patients with pruritus have a shorter transplant-free survival.

Role of Takeda G protein-coupled receptor-5 in non-viral liver diseases / 临床肝胆病杂志

Non-viral liver diseases mainly include nonalcoholic fatty liver disease, alcoholic liver disease, autoimmune liver disease, and cholestatic liver disease, and the prevalence rate of non-viral liver diseases tends to increase in recent years. Takeda G protein-coupled receptor-5 (TGR5) belongs to the G protein-coupled receptor superfamily and is activated by primary and secondary bile acids. TGR5 plays an important regulatory role in bile acid homeostasis, basal metabolism, energy balance, and alleviation of inflammatory response and is a potential therapeutic target for many diseases. An increasing number of evidence has shown that TGR5 exerts a protective effect on the liver by improving bile acid and glycolipid metabolism in liver, alleviating liver inflammation, and reducing liver steatosis. This article reviews the recent advances in the basic research on TGR5 in the field of non-viral liver diseases, so as to facilitate the development of the research on TGR5.

Advances in diagnosis and treatment of IgG4-related hepatobiliary and pancreatic diseases / 临床肝胆病杂志

IgG4-related hepatobiliary and pancreatic diseases are a part of the IgG4-related disease multiorgan fibroinflammatory disorder, including IgG4-related autoimmune pancreatitis, IgG4-related sclerosing cholangitis, and IgG4-related hepatic involvement. The main pathological features include IgG4 + plasma cell/lymphocyte infiltration, storiform fibrosis, obliterative phlebitis, and eosinophil infiltration. The diagnosis of this disease is often based on the comprehensive diagnostic criteria for IgG4-related diseases and organ-specific diagnostic criteria. However, it is difficult to differentiate IgG4-related hepatobiliary and pancreatic diseases from neoplastic diseases, and novel diagnostic biomarkers are expected to improve the sensitivity and specificity of diagnosis. To date, glucocorticoids remain the first-line drug for this disease, and biological agents, especially anti-CD20 monoclonal antibody, may be an alternative therapy for patients with corticosteroid contraindication/intolerance or recurrent/refractory disease.

The early diagnosis and treatment of atypical autoimmune liver disease should be taken seriously / 临床肝胆病杂志

Autoimmune liver disease is a group of diseases mainly caused by autoimmune abnormalities, including autoimmune hepatitis dominated by hepatocellular injury, primary biliary cholangitis and primary sclerosing cholangitis dominated by bile duct injury, and overlap syndrome with the main features of the above two diseases. Recently, IgG4-related hepatobiliary diseases have also been included in this category, and without timely diagnosis and treatment, it can progress to liver cirrhosis and even liver failure. Different autoimmune liver diseases have their own features, and with the popularization of the knowledge on autoimmune liver diseases, physicians have gradually increased their understanding of such diseases and can achieve the early diagnosis and timely treatment of most typical autoimmune liver diseases. However, some patients may have atypical manifestations or laboratory markers, which may easily delay the diagnosis, and therefore, it is of great importance to identify atypical autoimmune liver disease and give timely diagnosis and treatment as soon as possible.

Review and prospect of the development in the field of autoimmune liver diseases in China over the last 20 years / 临床肝胆病杂志

Through big data, this paper reviews the national research projects and the academic papers published in China and globally in the field of autoimmune liver diseases in China from 2001 to 2020, revealing the development trend in the past two decades. This paper also introduces the updates of the newly issued guidelines for the diagnosis and treatment of autoimmune liver diseases, and reviews the development of autoantibody detection technology and analyzes its progress.

The role of microRNA in autoimmune liver diseases / 临床肝胆病杂志

MicroRNA(miRNA) affect various biological processes such as cell differentiation, proliferation, and apoptosis by inhibiting the translation of target genes after transcription and are widely involved in the regulation of immune and inflammatory responses in organisms. Autoimmune liver diseases are a group of chronic inflammatory diseases of the hepatobiliary system mediated by abnormal immunity, and abnormal immune inflammatory response of liver tissue with the involvement of miRNA is closely associated with the development and progression of autoimmune liver diseases. This article reviews the current research advances in miRNA in autoimmune liver diseases.

Colangitis esclerosante primaria. Una revisión narrativa / Primary Sclerosing Cholangitis. A narrative review

RESUMEN La colangitis esclerosante primaria (CEP) es una patología hepática crónica y rara que se caracteriza por la inflamación y fibrosis de los conductos biliares, cuya evolución puede llevar a la cirrosis, hipertensión portal y enfermedad hepática en etapa terminal. Su etiología es desconocida, pero se ha relacionado con factores genéticos y autoinflamatorios. Además, tiene una relación muy estrecha con la enfermedad inflamatoria intestinal (EII). Su presentación clínica es muy inespecífica, sus principales síntomas son el prurito y la fatiga. La prueba estándar para su diagnóstico es la colangiopancreatografía por resonancia magnética (CPRM), donde se observa un aspecto anular ocasionado por estenosis multifocales cortas con segmentos alternos normales o dilatados. Actualmente, no existe ningún tratamiento farmacológico que logre prolongar la supervivencia sin un trasplante de hígado en la CEP. Sólo se puede hacer tratamiento sintomático, especialmente del prurito. El único manejo curativo con el que se cuenta hoy en día es el trasplante hepático, aunque existe un riesgo de recurrencia de la enfermedad. Es muy importante la vigilancia de los trastornos inflamatorios intestinales, la malignidad y la enfermedad metabólica ósea en estos pacientes. Se ha visto que algunos factores, como el diagnóstico temprano, son de buen pronóstico para la enfermedad.

SUMMARY Primary sclerosing cholangitis (PSC) is a rare, chronic liver pathology characterized by inflammation and fibrosis of the bile ducts, whose evolution can lead to cirrhosis, portal hypertension and end-stage liver disease. Its etiology is unknown, but it has been related to genetic and autoinflammatory factors. In addition, it has a very close relationship with inflammatory bowel disease. Its clinical presentation is nonspecific, the main symptoms are pruritus and fatigue. The standard test for diagnosis is magnetic resonance cholangiopancreatography (MRCP), where an annular aspect is observed caused by short multifocal stenoses with alternating normal or dilated segments. Currently, there is no pharmacological treatment that can prolong the survival without liver transplantation in PSC. Symptomatic treatment is warranted, especially for pruritus. The only curative treatment that is currently available is liver transplantation, although there is a risk of recurrence of the disease. The monitoring of intestinal inflammatory disorders (IID), malignancy and metabolic bone disease in these patients is very important. It has been seen that some factors, such as early diagnosis, are good prognosis for the disease.

Type 1 autoimmune pancreatitis: relapse with liver abscess / Pancreatite autoimune tipo 1: recidiva com abscesso hepático

ABSTRACT: Type 1 autoimmune pancreatitis is a cause of chronic pancreatitis related to the systemic disease known as IgG4-related Sclerosing Disease. Case report: We report the case of a 64-year-old male patient who presented recurrentepigastric pain radiating to the back, associated with jaundice, xerostomia, nausea, and vomiting, since 2014, diagnosed two years later with an unresectable pancreatic adenocarcinoma. The diagnosis was questioned after a few follow-up months without clinical deterioration when it was suggested the possibility of type 1 autoimmune pancreatitis in its pseudotumoral form. The patient was then treated with glucocorticoids, obtaining significantclinical improvement. After two years of follow-up, he returned asymptomatic with images suggestive of sclerosingcholangitis and a large liver abscess. Importance of the issue: The present case denotes the difficulty found in this diagnosis due to clinical and radiological resemblances with pancreatic adenocarcinoma. Besides that, it presents a seldom described disease complication, the liver abscess. (AU)

RESUMO: A pancreatite autoimune tipo 1 é uma causa de pancreatite crônica relacionada à doença sistêmica conhecida como Doença Esclerosante relacionada à IgG4. Relato do caso: Relatamos o caso de um paciente do sexo masculino,64 anos, que apresentou quadros recorrentes de dor epigástrica com irradiação para as costas, associada com icterícia, xerostomia, náuseas e vômitos desde 2014, diagnosticado após 2 anos com adenocarcinoma pancreático irressecável. O diagnóstico foi questionado após alguns meses de acompanhamento sem deterioração clínica, quando aventaram a possibilidade de forma pseudotumoral da pancreatite autoimune tipo 1. Realizou tratamento com glicocorticoides, obtendo melhora clínica importante. Após dois anos de acompanhamento, retorna assintomático com imagens sugestivas de colangite esclerosante e volumoso abscesso hepático. Importância do problema: O presente caso denota uma dificuldade encontrada no diagnóstico dessa entidade devido a semelhanças clínico-radiológicas com o adenocarcinoma pancreático. Além disso, apresenta uma complicação pouco descrita da doença, o abscesso hepático. (AU)

Advances in Treatment of Cholestatic Liver Diseases / 胃肠病学

Cholestatic liver diseases (CLD) are a series of hepatobiliary diseases characterized by dysfunction of bile formation, secretion and excretion and are induced by immune, genetic and environmental factors. The development and pathogenesis of CLD is still unclear, and it has a risk of progression to liver fibrosis and cirrhosis. Traditional medicines such as ursodeoxycholic acid (UDCA), glucocorticoids and immunosuppressants have certain limitations. More and more studies provide new insights into the mechanism of cholestasis to explore the therapeutic targets, and various drugs such as all-trans retinoic acid, microecologics and norursodeoxycholic acid emerge as new therapeutic drugs. This article reviewed the advances in treatment of CLD.

Research advances in high-risk factors for primary biliary cholangitis / 临床肝胆病杂志

Primary biliary cholangitis (PBC) is a multifactorial disease caused by the combined effect of genetic susceptibility and environmental triggers. Among the known risk factors for PBC, environmental factors mainly cause the onset of the disease by disrupting mitochondrial immune tolerance. With the deepening of research, especially the application of genome-wide association study technology, some dangerous genes have been found, such as human leukocyte antigen gene IL and X chromosome monomer. This article reviews the research advances in high-risk factors for PBC.

Diagnosis and treatment strategies for inflammatory bowel disease with concomitant biliary diseases / 临床肝胆病杂志

Inflammatory bowel disease (IBD) is a series of non-specific chronic inflammatory diseases, including ulcerative colitis and Crohn’s disease. Besides gastrointestinal symptoms, IBD patients often have extraintestinal symptoms which may involve various systems such as the skeleton and muscle, skin, eyes, liver and gallbladder, pancreas, nerves, urogenital system, lungs, heart, and blood. Biliary diseases are extraintestinal manifestations of IBD and mainly include primary sclerosing cholangitis, IgG4-associated sclerosing cholangitis, primary biliary cirrhosis, and cholelithiasis. Biliary diseases may manifest as transient abnormal liver function in asymptomatic patients and even life-threatening liver failure, and different biliary diseases may have different treatment methods and prognoses and thus require careful differential diagnosis. This article reviews biliary diseases in IBD patients, in order to help clinicians get familiar with the clinical manifestations and diagnosis and treatment strategies for biliary diseases in IBD patients.

Current status of research on inflammatory bowel disease with special comorbidities / 临床肝胆病杂志

Inflammatory bowel disease (IBD) not only involves the intestinal tract, but also has several comorbidities outside the intestinal tract, among which there are various types of special comorbidities, including hematological system diseases, immune system diseases, and nervous system diseases. IBD with special comorbidities brings difficulties to the diagnosis and treatment of IBD, increases the disability rate and mortality rate of IBD patients, and greatly affects patients’ quality of life. This article elaborates on the definition, prevalence trend, pathogenesis, and diagnosis and treatment strategies for IBD with special comorbidities, in order to improve the understanding of the importance of multidisciplinary cooperation in the diagnosis and treatment of IBD among clinicians.

Diagnostic and prognostic value of autoantibodies in primary biliary cholangitis / 临床肝胆病杂志

Primary biliary cholangitis (PBC) is an autoimmune cholestatic liver disease with unknown etiology. Liver biopsy is an important diagnostic tool, but its clinical application is limited due to its invasiveness. Autoantibodies have special diagnostic and prognostic value for PBC, especially anti-mitochondrial antibodies and antinuclear antibodies, and each antibody has unique clinical significance. This article reviews the diagnostic and prognostic significance of autoantibodies associated with PBC and related research advances.

Current status of research on overlap syndrome of autoimmune liver disease / 临床肝胆病杂志

Autoimmune liver diseases mainly include primary biliary cholangitis (PBC), autoimmune hepatitis (AIH), and primary sclerosing cholangitis. Simultaneous or successive occurrence of the features of any two of the above diseases is called overlap syndrome, among which PBC-AIH overlap syndrome is the most common type. Overlap syndrome can progress rapidly to liver cirrhosis and liver failure without timely treatment. This article summarizes the research advances in overlap syndrome of autoimmune liver disease in recent years.

Reporte de una nueva mutación en Colombia: un paciente con síndrome de Kabuki / Report of a new mutation in Colombia in a patient with Kabuki Syndrome

RESUMEN Introducción: el síndrome de Kabuki es un desorden pediátrico congénito de origen genético. Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades vertebrales. La mayoría cursan con dificultad del aprendizaje. Objetivo: reportar un caso pediátrico de síndrome de Kabuki y fomentar el reconocimiento del fenotipo asociado para facilitar su diagnóstico oportuno. Caso Clínico: paciente masculino de 9 años con características clínicas y diagnóstico genético probable para síndrome de Kabuki. Presenta fisuras palpebrales largas, paladar en ojival, baja implantación auricular, persistencia de almohadillas en pulpejos de dedos, talla baja y colangitis esclerosante primaria. Conclusión: el síndrome de Kabuki tipo 1, se caracteriza por alteraciones faciales que inducen una sospecha diagnóstica. El paciente reportado presentaba múltiples hallazgos descritos. En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica.

SUMMARY Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease.