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Quality in Sport

Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods
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Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods

Authors

  • Jakub Wawrzkowicz Voivodeship Clinical Hospital No. 2 in Rzeszów St. Lwowska 60, 35-301 Rzeszów, Poland https://orcid.org/0009-0008-2837-6030
  • Monika Korga Voivodeship Clinical Hospital No. 2 in Rzeszow  St. Lwowska 60, 35- 301 Rzeszów, Poland https://orcid.org/0009-0001-5326-6457
  • Paweł Pawlik 1 Military Clinical Hospital in Lublin  al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0005-7910-3911
  • Przemysław Zaroda Voivodeship Specialist Hospital in Lublin  al. Kraśnicka 100, 20- 718 Lublin, Poland https://orcid.org/0009-0005-3241-5563
  • Paweł Dąda Voivodeship Specialist Hospital in Lublin  al. Kraśnicka 100, 20-718 Lublin, Poland https://orcid.org/0009-0009-4627-7113
  • Patrycja Niewinna 1 Military Clinical Hospital in Lublin  al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0006-8933-8324
  • Michał Żuchowski Independent Public Clinical Hospital No. 4 in Lublin  St. Jaczewskiego 8, 20-954 Lublin, Poland https://orcid.org/0009-0007-1511-3568
  • Dominika Mańdziuk 1 Military Clinical Hospital in Lublin  al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0002-1502-8826
  • Klaudia Kołodziej 1 Military Clinical Hospital in Lublin  al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0000-7494-6147
  • Wojciech Kołodziej 1 Military Clinical Hospital in Lublin  al. Racławickie 23, 20-049 Lublin, Poland https://orcid.org/0009-0002-8816-8053

DOI:

https://doi.org/10.12775/QS.2024.15.51825

Keywords

Crigler-Najjar syndrome, liver transplantation, phototherapy, bilirubin abnormalities, liver diseases, UGT1A1 mutation

Abstract

Crigler-Najjar syndrome is an autosomal recessive genetic disorder characterized by a mutation in the UGT1A1 gene, resulting in a complete deficiency of uridine diphosphate glucuronosyltransferase enzyme in hepatocytes. This leads to jaundice due to elevated levels of indirect bilirubin in the blood. Two types of the syndrome are distinguished: type I and type II. Untreated disease can lead to serious complications, often necessitating liver transplantation. Therefore, there is a constant need for new treatment methods. This article provides an overview of the clinical symptoms, pathophysiological mechanisms, and current diagnostic and treatment methods for this condition. Although Crigler-Najjar syndrome is rare, its diagnosis and treatment pose clinical challenges due to potential complications associated with bilirubin accumulation. The article also discusses therapeutic perspectives, such as phototherapy and plasma exchange, and provides recommendations for patient care. Given the limited availability of information on Crigler-Najjar syndrome, this review aims to increase clinical awareness and improve the quality of care for patients with this rare disorder.

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Published

2024-07-05

How to Cite

1.
WAWRZKOWICZ, Jakub, KORGA, Monika, PAWLIK, Paweł, ZARODA, Przemysław, DĄDA, Paweł, NIEWINNA, Patrycja, ŻUCHOWSKI, Michał, MAŃDZIUK, Dominika, KOŁODZIEJ, Klaudia and KOŁODZIEJ, Wojciech. Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods. Quality in Sport. Online. 5 July 2024. Vol. 15, p. 51825. [Accessed 22 June 2025]. DOI 10.12775/QS.2024.15.51825.
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Vol. 15 (2024)

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Copyright (c) 2024 Jakub Wawrzkowicz, Monika Korga, Paweł Pawlik, Przemysław Zaroda, Paweł Dąda, Patrycja Niewinna, Michał Żuchowski, Dominika Mańdziuk, Klaudia Kołodziej, Wojciech Kołodziej

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This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

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