Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Autor:	Degtyareva A; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Dokshukina A; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Filippova E; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Shubina J; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Tolmacheva E; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Sadelov I; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Albegova M; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow., Degtyarev D; Department of Pediatrics and Clinical Genetics, National Medical, Research Center for Obstetrics, Gynecology, and Perinatology Named after Academician V.I. Kulakov, Moscow.
Jazyk:	angličtina
Zdroj:	Current pediatric reviews [Curr Pediatr Rev] 2024 Feb 16. Date of Electronic Publication: 2024 Feb 16.
DOI:	10.2174/0115733963264010231213103328
Abstrakt:	Background: Cholestatic liver disease is an important cause of morbidity and mortality and a leading indication for liver transplantation in children. These include diseases, such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis, bile acid synthesis defects, and many others. Case Presentation: NGS was used as a diagnostic tool to identify the genetic cause in the patient with cholestatic syndrome and to figure out and describe what mutation will be found. In the present observation, the cholestasis syndrome with low GGT activity and intense pruritus was the leading symptom of the patient. The examination also revealed other characteristic features of osteo- oto-hepato-enteric syndrome. The patient had facial features that mimicked Alagille syndrome, which complicated the diagnostic search. Moreover, the genetic test revealed two new pathogenic variants in the UNC45A gene. Conclusion: This clinical observation demonstrates the importance of a multidisciplinary approach in the diagnosis of rare genetic diseases and using WES, which can accelerate the diagnosis compared with outdated gene panels. (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu