935 results match your criteria Dubin-Johnson Syndrome


Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family.

Front Pediatr 2022 25;10:855210. Epub 2022 May 25.

Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.

Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was missed until the age of 14 years old. Read More

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In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.

Arab J Gastroenterol 2022 Apr 25. Epub 2022 Apr 25.

Department of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, India. Electronic address:

Background And Study Aims: Dubin-Johnson syndrome (DJS) is a benevolent genetic disorder of the liver with autosomal inheritance. It is a rare disorder characterized by an increase in conjugated bilirubin and anomaly in coproporphyrin clearance. DJS is caused by deleterious mutations in the ABCC2 gene. Read More

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A case of true vocal fold jaundice.

Am J Otolaryngol 2022 May-Jun;43(3):103456. Epub 2022 Apr 6.

Division of Otolaryngology-Head and Neck Surgery, Brigham and Women's Hospital, Boston, MA, USA; Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.

Objectives: While jaundice is frequently described in the sclera and skin, there are few reports of true vocal fold jaundice in patients with high bilirubin, and no reports by otolaryngologists in the literature. Here we describe a case of a patient with bilateral true vocal fold jaundice and discuss the potential pathogenesis and implications of this finding.

Methods: A 29-year-old man with history of Dubin-Johnson Syndrome presented with cough and difficulty breathing and was incidentally found to have persistent yellow discoloration of the true vocal folds bilaterally. Read More

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Clinical characteristics and liver profiles of Dubin-Johnson syndrome in neonates: Multicenter retrospective study.

Arch Pediatr 2022 May 26;29(4):267-271. Epub 2022 Mar 26.

Department of Pediatric Gastroenterology, King Saud University, Riyad, Saudi Arabia.

Objectives: Dubin-Johnson syndrome (DJS) is a rare benign autosomal recessive disorder characterized by cholestasis in neonates. The aim of the present study was to describe the clinical characteristics, hepatic profiles, histopathology, gene mutations, and treatment outcomes of neonatal DJS.

Material And Methods: A multicenter retrospective study was undertaken with patients who had DJS. Read More

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Clinical features, concurrent disorders, and survival time in cats with suppurative cholangitis-cholangiohepatitis syndrome.

J Am Vet Med Assoc 2022 01 14;260(2):212-227. Epub 2022 Jan 14.

Objective: To characterize clinical features, comorbidities, frequency of bacterial isolation, and survival time in cats with suppurative cholangitis-cholangiohepatitis syndrome (S-CCHS).

Animals: 168 client-owned cats with S-CCHS.

Procedures: Data were prospectively (1980 to 2019) collected regarding clinical features, comorbidities, bacterial infection, illness duration, and treatments. Read More

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January 2022

Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.

Front Pediatr 2021 10;9:741835. Epub 2021 Nov 10.

Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.

There are only a few case reports and small case series on neonatal-onset Dubin-Johnson syndrome (DJS), particularly from Far-East Asia, Iranian and Moroccan Jews, and Europe. In this first study from the Arabs and the largest series reported to date, we characterized the clinical, laboratory, and molecular features and outcome of gene-confirmed neonatal-onset DJS. We reviewed our database of 533 cases of neonatal cholestasis that presented to our center during the period from 2008 to 2019. Read More

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November 2021

Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.

Dig Dis 2021 Jul 6. Epub 2021 Jul 6.

Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany.

Introduction: Pathogenic mutations in genes encoding the hepatocanalicular transporters ATP8B1, ABCB11 and ABCB4 are causative for progressive cholestatic liver disease in children. In adults, less severe variants such as the common ABCB4 c.711A>T polymorphism have been associated with intrahepatic cholestasis in pregnancy and elevated liver enzymes. Read More

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[Clinical and pathological features of Dubin-Johnson syndrome].

Zhonghua Bing Li Xue Za Zhi 2021 Aug;50(8):929-933

Department of Pathology, the Third Affiliated Hospital, Sun Yat-sen University, Guangzhou 510630, China.

To explore the clinical and pathological features of Dubin-Johnson syndrome. The clinical and pathological characteristics of 18 cases of Dubin-Johnson syndrome diagnosed in the Department of Pathology of the Third Affiliated Hospital of Sun Yat-sen University from 2008 to 2018 were analyzed. Related literature was reviewed. Read More

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Literature review and report of three cases of Dubin-Johnson syndrome related to ABCC2 gene mutations in children.

Am J Transl Res 2021 15;13(5):4477-4488. Epub 2021 May 15.

Department of Traditional Chinese Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing 100045, China.

Objective: The aim of the present study was to analyze the clinical features of Dubin-Johnson syndrome (DJS) related to ABCC2 gene mutations in children and to review the relevant literature to improve understanding of this type of genetic disease and reduce misdiagnosis.

Methods: Three children with clinically suspected DJS who were treated at Beijing Children's Hospital of Capital Medical University between 2017 and 2020 were enrolled in the study. The target genes were captured and sequenced using GenCap target gene capture technology and a new generation of high-throughput sequencing technology (Beijing Mykino Company). Read More

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Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.

Pediatr Res 2022 May 28;91(6):1571-1578. Epub 2021 May 28.

Digestive Department, Children' Hospital of Hebei Province, Shijiazhuang, Hebei, China.

Background: The clinical characteristics and gene mutation characteristics of children with Dubin-Johnson syndrome (DJS) need in-depth study.

Methods: The clinical and genomic data of neonatal Dubin-Johnson syndrome (NDJS) and 155 cases with idiopathic cholestasis (IC) were analyzed from June 2016 to August 2020 RESULTS: ABCC2 gene variants were identified in eight patients, including one patient with homozygous variants and seven patients with compound heterozygous variants. A total of 13 different ABCC variants were detected in the NDJS patients, including three nonsense variants, six missense variants, three frameshift variants, and a splice site variant. Read More

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Clinicobiochemical Parameters and Predictors of Liver Disease in Hospitalized Asian Indian Pregnant Women in a Tertiary Care Center in Northern India.

Cureus 2021 Feb 17;13(2):e13405. Epub 2021 Feb 17.

Medicine, C U Shah Medical College, Surendranagar, IND.

Introduction  During pregnancy, liver dysfunction is more frequent than expected and may require specialized care. For the early diagnosis, it is important to determine if changes in liver physiology may develop into liver disease. Liver disease during pregnancy may require intervention from a hepatologist for adequate monitoring of mother-fetus health outcomes. Read More

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February 2021

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Clin Chim Acta 2021 Jul 10;518:43-50. Epub 2021 Mar 10.

Laboratory of Molecular and Functional Genetics, Faculty of Science, University of Sfax, Tunisia. Electronic address:

Background And Aims: The Dubin Johnson Syndrome (DJS) occurs mostly in young adults but an early-onset of the disease has been reported in less common forms (Neonatal DJS and Infantile DJS). In this case, the clinical findings are of limit for the DJS diagnosis. Hence, the genetic testing remains the method of choice to provide an accurate diagnosis. Read More

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Dubin-Johnson syndrome as a laparoscopic finding.

Rev Esp Enferm Dig 2021 Aug;113(8):610-611

Cirugía General, Hospital Garcia Orcoyen.

We present the case of a 35-year-old female with a history of polycystic ovary syndrome, treated with oral contraceptives. She was under study due to nine months evolution of pain in the right iliac fossa, associated with hyporexia and mild hyperbilirubinemia with a predominance of the conjugated fraction (total Bi 3.7 mg/dl, conjugated Bi 2. Read More

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Clinical characteristics and genotype in Dubin-Johnson syndrome: A case report and review of the literature.

World J Clin Cases 2021 Feb;9(4):878-885

Department of Infectious Diseases, The Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China.

Background: Dubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the gene are commonly used for diagnosing DJS; however, the causative point mutation in Chinese patients remains unknown. Read More

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February 2021

Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis.

J Pediatr Gastroenterol Nutr 2021 05;72(5):e105-e111

Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver, and Metabolic Diseases.

Objectives: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder in which multidrug-resistance-associated protein 2 (MRP2) deficiency causes an excretion disorder of conjugated bilirubin from hepatocytes into bile canaliculi. Its clinical presentation as neonatal cholestasis (NC) is rare but represents an important differential diagnosis. We aimed to define DJS-specific characteristics in NC, in particular in contrast to biliary atresia (BA) patients, and to highlight diagnostic tools that can help to avoid invasive diagnostic tests. Read More

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A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts.

Pediatr Dev Pathol 2021 Mar-Apr;24(2):154-158. Epub 2021 Jan 20.

Department of Pediatrics, UT Southwestern Medical Center/Children's Medical Center, Dallas, Texas.

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder that typically manifests in young adulthood as jaundice with conjugated hyperbilirubinemia. We report a case presenting as neonatal cholestasis with the unexpected histologic finding of paucity of interlobular bile ducts, a feature that is not typically seen in DJS. The diagnosis was confirmed by absent canalicular multidrug-resistance-associated protein 2 (MRP2) immunohistochemical staining on liver biopsy tissue and molecular genetic testing that demonstrated heterozygous mutations in the ATP-Binding Cassette Subfamily C Member 2 ( gene, including a novel missense mutation. Read More

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November 2021

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

Indian J Gastroenterol 2021 02 11;40(1):72-76. Epub 2021 Jan 11.

Gastroenterology and Advanced G.I Endoscopy, Cochin Gastroenterology Group, Ernakulam Medical Center, Kochi, 682 028, India.

Dubin-Johnson syndrome (DJS), an autosomal recessive disorder presenting with conjugated hyperbilirubinemia, is not associated with progression to chronic liver disease (CLD). Next-generation sequencing, application of bioinformatics pipeline, and segregation analysis were performed on 8 members of a consanguineous family with DJS and CLD. A novel variant, c. Read More

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February 2021

Idiopathic adulthood ductopenia with elevated transaminase only: A case report.

World J Clin Cases 2020 Dec;8(24):6524-6528

Department of Hepatology, The First Hospital of Jilin University, Changchun 130021, Jilin Province, China.

Background: Idiopathic adulthood ductopenia (IAD) is a chronic cholestatic liver disease of unknown etiology that usually presents as unexplained jaundice. It is characterized by adult onset, lack of autoantibodies, inflammatory bowel disease and loss of interlobular bile ducts.

Case Summary: This case presents a 27-year-old woman with elevation of transaminases and alkaline phosphatase without clinical symptoms. Read More

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December 2020

Dubin-Johnson Syndrome.

Am J Gastroenterol 2020 09;115(9):1386

1Department of Gastroenterology and Endoscopy, Medical School and University Hospital Dr. "Jose E. Gonzalez", Monterrey, Mexico.

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September 2020

Dubin-Johnson syndrome coexisting with glucose-6-phosphate dehydrogenase deficiency presenting after acute viral hepatitis.

J Pak Med Assoc 2020 Aug;70(8):1460-1461

Department of Operative Dentistry, Armed Forces Institute of Dentistry, Pakistan.

Dubin-Johnson syndrome presents as asymptomatic recurrent hyperbilirubinemia, while Glucose-6-Phosphate-Dehydrgenase-deficiecy as acute haemolytic anaemia. We present a case with coexisting Dubin-Johnson syndrome and Glucose-6-Phosphate Dehydrogenase deficiency unmasked by acute viral hepatitis E. Read More

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Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.

BMC Pediatr 2020 08 5;20(1):369. Epub 2020 Aug 5.

Department of Pediatrics, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-Gu, 110-769, Seoul, Korea.

Background: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2). Read More

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Idiopathic Adulthood Ductopenia Causing Cirrhosis.

ACG Case Rep J 2020 Mar 17;7(3):e00349. Epub 2020 Mar 17.

Department of Pathology, Medical University of South Carolina, Charleston, SC.

Idiopathic adulthood ductopenia (IAD) is a chronic small duct cholestatic biliary disease that is characterized by the loss of interlobular bile ducts. It is diagnosed when there is biochemical evidence of cholestatic liver disease, ductopenia on liver biopsy, and no other identifiable cause of cholestasis. We present a patient with 10 days of progressive abdominal pain, jaundice, and worsening liver function tests who advanced to fulminant liver failure with no apparent underlying cause. Read More

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A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Orphanet J Rare Dis 2020 03 18;15(1):74. Epub 2020 Mar 18.

Liver Research Center, Experimental Center, Beijing Friendship Hospital, Capital Medical University, 95 Yong-An Road, Beijing, 100050, China.

Background: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by pathogenic mutations in the adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2) gene, which encodes multidrug resistance-associated protein 2 (MRP2). However, little is known about the causative mutation of DJS in China. Recently, we have reported ABCC2 p. Read More

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Dubin-Johnson Syndrome Presenting During Cardiac Transplantation Evaluation.

Cureus 2020 Jan 8;12(1):e6594. Epub 2020 Jan 8.

Internal Medicine: Gastroenterology, Tufts Medical Center, Boston, USA.

Dubin-Johnson syndrome is a rare, benign disorder that results in conjugated hyperbilirubinemia. The disease manifests as intermittent jaundice without long-term hepatic or other clinical complications. This article reports a case of Dubin-Johnson syndrome, which was identified during cardiac transplant evaluation for cardiomyopathy secondary to a polyglycogen storage disease. Read More

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January 2020

Laparoscopic cholecystectomy for cholecystolithiasis with Dubin-Johnson syndrome.

JGH Open 2019 Dec 22;3(6):532-533. Epub 2019 Jul 22.

Centre of General Surgery, Hospital of People's Liberation Army Urumqi City Xinjiang China.

Dubin-Johnson syndrome is a rare, autosomal recessive hereditary disease, commonly known as "black liver disease." It is of great interest for surgeons to accidentally find the "black liver" during laparoscopic cholecystectomy (LC). We performed an emergency LC for cholecystolithiasis with Dubin-Johnson syndrome in 2013. Read More

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December 2019

Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.

World J Clin Cases 2019 Oct;7(20):3303-3309

Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.

Background: Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. Read More

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October 2019

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.

Liver Int 2020 01 13;40(1):163-174. Epub 2019 Oct 13.

INSERM, Centre de Recherche Saint-Antoine (CRSA), Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Sorbonne Université, Paris, France.

Background And Aims: The ABCC2 gene is implicated in Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver disorder. The primary aim of this study was to determine the diagnostic value of ABCC2 genetic testing in the largest cohort of DJS reported to date. The high number of patients with cholestatic manifestations in this series prompted us to evaluate the genetic contribution of rare, potentially pathogenic ABCC2 variants to other inherited cholestatic disorders. Read More

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January 2020