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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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

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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, br. 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 i Dragan Primorac. "Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy." Biomedicines 11, br. 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, i sur.. Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy. Biomedicines [Internet]. 12.05.2023. [pristupljeno 21.04.2024.];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, br. 5, Svibanj 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:866296. [Citirano: 21.04.2024.]

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Podaci o radu
Naslov (engleski)Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy
AutorPetar Brlek
AutorLuka Bulić
AutorDavid Glavaš Weinberger
AutorJelena Bošnjak
AutorTomislav Pavlović
MBZ: 386512
AutorSvetlana Tomić
MBZ: 332951
AutorZdravka Krivdić Dupan
AutorIgor Borić
MBZ: 253942
AutorDragan Primorac
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaBiomedicines
Brojčani podacivol. 11, br. 5, 1430
e-ISSN2227-9059
DOIhttps://doi.org/10.3390/biomedicines11051430
URN:NBNurn:nbn:hr:184:866296
Datum objave publikacije2023-05-12
URL dokumentahttp://bib.irb.hr/1270983
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2023-05-15 09:03:21