Zobrazeno 1 - 10
of 752
pro vyhledávání: '"Dubin–Johnson syndrome"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundDubin-Johnson Syndrome (DJS) is a rare autosomal recessive genetic disorder, with most cases presenting in adolescence, but rare in newborns.ObjectiveTo investigate the clinical characteristics and treatment outcomes of DJS in a newborn.Met
Externí odkaz:
https://doaj.org/article/6c389bbd51144a4a9eddb4f0ee762b52
Publikováno v:
The Saudi Journal of Gastroenterology, Vol 29, Iss 3, Pp 183-190 (2023)
Background: Dubin-Johnson syndrome (DJS) presents during the neonatal period with a phenotype that overlaps with a broad list of causes of neonatal cholestasis (NC), which makes the identification of DJS challenging for clinicians. We conducted a cas
Externí odkaz:
https://doaj.org/article/89382e729da044ccb0ec8a9011396db3
Akademický článek
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Publikováno v:
Case Reports in Gastroenterology, Vol 16, Iss 2, Pp 452-455 (2022)
A 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg/dL, direct 5.37 mg/dL), bilirubinuria, no sign
Externí odkaz:
https://doaj.org/article/104db37f94374e629eb8a16f047976fd
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Dubin–Johnson syndrome (DJS) is a rare autosomal recessive genetic disease which is caused by mutations in the ABCC2 gene; it is characterized by chronic hyperbilirubinemia. Here, we report two pedigrees affected with DJS which were cau
Externí odkaz:
https://doaj.org/article/8e2bfc36ac744304b968ebaafc73520a
Autor:
Naglaa M. Kamal, Omar Saadah, Hamdan Alghamdi, Ali Algarni, Mortada H. F. El-Shabrawi, Laila M. Sherief, Salma A. S. Abosabie
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
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 defini
Externí odkaz:
https://doaj.org/article/cc5da3bc16dc480093fc399af6fe41e1
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract 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 neo
Externí odkaz:
https://doaj.org/article/5c1cd5c879f64f50b72464e0d504b2b8
Autor:
Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, Hong You, Jidong Jia, Jian Huang, Xiaojuan Ou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract 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 mem
Externí odkaz:
https://doaj.org/article/bfa1b455702845e5ae0c9ed781eeb1fe
Autor:
Ji-Hoon Kim, Min-Woo Kang, Sangmi Kim, Ji Won Han, Jeong Won Jang, Jong Young Choi, Seung Kew Yoon, Pil Soo Sung
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 16168 (2022)
We report a case of a patient with Dubin–Johnson syndrome confirmed by a genetic study. A 50-year-old woman who had symptoms of intermittent right upper quadrant abdominal pain was diagnosed with calculous cholecystitis at another institute and was
Externí odkaz:
https://doaj.org/article/d4d87401b44a4dd8b1c9ad22b2afdeb4
Autor:
Abdulrahman Al-Hussaini, Badr AlSaleem, Hamad AlHomaidani, Ali Asery, Muhanad Alruwaithi, Mohammed Alameer, Waleed Afashah, Bashir Muhammed Salman, Naif Almontashiri
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: 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.Objectives: In this first study from the Arabs and the larges
Externí odkaz:
https://doaj.org/article/63138e1366df49149ee0cf1f353929ba