926 results match your criteria Dubin-Johnson Syndrome

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

Pediatr Res 2021 May 28. 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 Mar 4. Epub 2021 Mar 4.

Cirugía General, Hospital Garcia Orcoyen.

We present the case of a 35-year-old woman with a history of polycystic ovary syndrome, treated with oral contraceptives who was under study for 9 months evolution 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 2.9 mg/dL). 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 May;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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January 2021

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

Indian J Gastroenterol 2021 Feb 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


Rev Esp Enferm Dig 2020 Dec 29. Epub 2020 Dec 29.

Aparato Digestivo, Hospital Universitario Virgen de las Nieves, España.

Nintedanib is a multikinase inhibitor used for the treatment of Pulmonary Idiopathic Fibrosis. We present the first report published until now about severe hepatotoxicity and jaundice secondary to Nintedanib. A 88-year-old male with a 1-month history of weakness, weight loss, jaundice and pruritus without abdominal pain. 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

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

JAMA Ophthalmol 2019 Nov;137(11):1312-1316

Formerly at Retrophin, Inc, San Diego, California.

Importance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols. Clinical symptoms and signs may include early-onset chronic diarrhea, juvenile-onset bilateral cataracts, cholestatic jaundice, tendon xanthomas, and progressive neurological deterioration. Although initiation of treatment at a young age can prevent disease complications, diagnosis often occurs after the onset of permanent neurologic damage. Read More

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November 2019

Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies.

Ophthalmic Surg Lasers Imaging Retina 2019 05;50(5):318-321

Coats' disease is nonhereditary retinal vascular disorder characterized by telangiectatic retinal vessels with prominent aneurysmal changes and exudation. A conclusive etiology has not yet been determined. In this retrospective case report and literature review, a 64-year-old male with Dubin-Johnson syndrome presented with unilateral retinal vascular changes and exudation consistent with a diagnosis of adult Coats' disease. Read More

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A Case of Dubin-Johnson Syndrome in Pregnancy.

Cureus 2019 Feb 11;11(2):e4048. Epub 2019 Feb 11.

Obstetrics & Gynecology, Maulana Azad Medical College, New Delhi, IND.

Dubin-Johnson syndrome is an autosomal recessive condition characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. It exacerbates during pregnancy and needs to be differentiated from other causes of jaundice. A 30-year-old patient presented to us with jaundice in her fourth pregnancy. Read More

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February 2019

[Diagnosis of a patient with Dubin-Johnson syndrome by using next generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):242-245

Ji'nan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, Shandong 250022, China.

Objective: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease.

Methods: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Read More

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Primary Sclerosing Cholangitis: A Concise Review of Diagnosis and Management.

Dig Dis Sci 2019 03 6;64(3):632-642. Epub 2019 Feb 6.

Section of Gastroenterology, Evans Department of Medicine, Boston University School of Medicine, Suite 7717, 85 E Concord St, Boston, MA, 02118, USA.

Primary sclerosing cholangitis is a rare, chronic cholestatic liver disease characterized by progressive idiopathic stricturing of the biliary system, typically leading to cirrhosis, end-stage liver disease, and colonic or hepatobiliary malignancy. Its presentation is often that of asymptomatic alkaline phosphatase elevation. When symptoms are present, they typically include fatigue, pruritus, or jaundice. Read More

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[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jan;21(1):64-70

Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou 510632, China.

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder resulting from biallelic mutations of ABCC2 gene, with long-term or intermittent conjugated hyperbilirubinemia being the main clinical manifestation. This paper aims to report the clinical features and ABCC2 genotypes of an infant with DJS. A 9. Read More

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January 2019

[Clinical and pathological features of inherited metabolic liver disease in adults].

Z Y He H You X Y Zhao

Zhonghua Gan Zang Bing Za Zhi 2018 Dec;26(12):889-893

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis. Read More

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December 2018