prikaz prve stranice dokumenta Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy
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Scientific paper - Case study
Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy
Biomedicines, 11 (2023), 5; 1430. https://doi.org/10.3390/biomedicines11051430
Brlek, Petar; Bulić, Luka; Glavaš Weinberger, David; Bošnjak, Jelena; Pavlović, Tomislav; Tomić, Svetlana; Krivdić Dupan, Zdravka; Borić, Igor; Primorac, Dragan

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Brlek, P., Bulić, L., Glavaš Weinberger, D., Bošnjak, J., Pavlović, T., Tomić, S. ... Primorac, D. (2023). Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy. Biomedicines, 11. (5). doi: 10.3390/biomedicines11051430

Brlek, Petar, et al. "Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy." Biomedicines, vol. 11, no. 5, 2023. https://doi.org/10.3390/biomedicines11051430

Brlek, Petar, Luka Bulić, David Glavaš Weinberger, Jelena Bošnjak, Tomislav Pavlović, Svetlana Tomić, Zdravka Krivdić Dupan, Igor Borić and Dragan Primorac. "Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy." Biomedicines 11, no. 5 (2023). https://doi.org/10.3390/biomedicines11051430

Brlek, P., et al. (2023) 'Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy', Biomedicines, 11(5). doi: 10.3390/biomedicines11051430

Brlek P, Bulić L, Glavaš Weinberger D, Bošnjak J, Pavlović T, Tomić S, and sur.. Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy. Biomedicines [Internet]. 2023 May 12 [cited 2024 December 27];11(5). doi: 10.3390/biomedicines11051430

P. Brlek, et al., "Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy", Biomedicines, vol. 11, no. 5, May 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:866296. [Accessed: 27 December 2024]

Metadata
Title (english)Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy
AuthorPetar Brlek
AuthorLuka Bulić
AuthorDavid Glavaš Weinberger
AuthorJelena Bošnjak
AuthorTomislav Pavlović
MBZ: 386512
AuthorSvetlana Tomić
MBZ: 332951
AuthorZdravka Krivdić Dupan
AuthorIgor Borić
MBZ: 253942
AuthorDragan Primorac
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol, which has a predilection for neuronal tissue and tendons. The condition is treatable with chenodeoxycholic acid (CDCA), which halts the production of these metabolites. We present two adult brothers, without diagnosis, suffering from ataxia, general muscle weakness and cognitive deficits. Both brothers suffered from early onset cataracts, watery stools and thoracic kyphoscoliosis. Magnetic resonance imaging revealed hyperintense alterations in the central nervous system and intratendinous xanthomas in the Achilles tendons. A biochemical analysis showed elevated levels of cholestanol, lathosterol and 7- dehydrocholesterol. Their family history was negative for neurological and metabolic disorders. Genetic testing revealed a pathogenic CYP27A1 variant (c.1184+1G>A) in both brothers, confirming the diagnosis. The patients were started on CDCA therapy and have shown significant improvement at their follow-up examinations. Early diagnosis and treatment initiation in CTX patients is of great importance, as the significant reversal of disease progression can be achieved. For this reason, clinical genetic testing is necessary when it comes to patients with an onset of cataracts, chronic diarrhea, and neurological symptoms in early childhood.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleBiomedicines
Numberingvol. 11, no. 5, 1430
e-ISSN2227-9059
DOIhttps://doi.org/10.3390/biomedicines11051430
URN:NBNurn:nbn:hr:184:866296
Publication2023-05-12
Document URLhttp://bib.irb.hr/1270983
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-05-15 09:03:21