Scopus
YÖKSİS Eşleşti
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response
Journal of Inherited Metabolic Disease · Temmuz 2025
YÖKSİS Kayıtları
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response
Journal of Inherited Metabolic Disease · 2025 SCI-Expanded
PROFESÖR HALUK GÜMÜŞ →
Makale Bilgileri
DergiJournal of Inherited Metabolic Disease
Yayın TarihiTemmuz 2025
Cilt / Sayfa48
Scopus ID2-s2.0-105011817537
Özet
Cerebrotendinous xanthomatosis (CTX) is a treatable neurometabolic disorder. Chenodeoxycholic acid (CDCA) is the first-line treatment and can potentially halt disease progression if initiated before neurologic symptoms appear. This nationwide, multicenter study evaluates the long-term effects of treatment in 86 genetically confirmed patients with CTX receiving CDCA for ≥ 6 months, focusing on neurologic and extraneurologic outcomes, prognostic factors, and biochemical response. Clinical and biochemical parameters were recorded at baseline and follow-up, and neurological outcomes were assessed using neurological disability scores. Our results indicate a critical age of 28 years for the start of treatment. Patients diagnosed before 28 years showed 100% neurological stabilization or improvement, whereas patients diagnosed later had a higher rate of disease progression (p < 0.05). CDCA effectively stabilized or improved pyramidal and cerebellar symptoms, although myoclonus and parkinsonism remained less responsive. Psychiatric symptoms showed a lower treatment response, with psychosis being the most refractory finding. CDCA resulted in a strong and sustained reduction in cholestanol levels, although biochemical response did not always correlate with clinical improvement. Longer diagnostic delay and presence of anxiety and pyramidal/cerebellar symptoms were associated with poorer outcomes. Notably, a cholestatic child, for whom liver transplantation had initially been considered, recovered completely under CDCA therapy. Our results show that early diagnosis and initiation of CDCA therapy significantly improve neurological outcomes in CTX. However, even in late-diagnosed patients, treatment continues to be beneficial, demonstrating that it is never too late to start therapy. Biochemical response does not always predict clinical improvement; multidisciplinary follow-up is essential.
Yazarlar (32)
1
Tanyel Zubarioglu
2
Banu Kadıoğlu Yılmaz
3
Engin Köse
4
Pelin Teke Kisa
ORCID: 0000-0001-6481-3172
5
Mehmet Cihan Balcı
ORCID: 0000-0003-2167-8139
6
Havva Yazıcı
7
Burcu Ozturk Hismi
8
Abdurrahman Akgün
ORCID: 0000-0002-2917-2469
9
Deniz Kor
ORCID: 0000-0001-7659-0500
10
Sevil Yıldız
ORCID: 0000-0001-6947-2573
11
Gonca Kılıç-Yıldırım
12
Erdoğan Soyuçen
ORCID: 0000-0002-2500-7028
13
Aylin Akçali
14
Yilmaz Yildiz
ORCID: 0000-0001-9076-1388
15
Aslı Durmuş
16
Dilek Güneş
ORCID: 0000-0002-0112-0624
17
Pembe Soylu Üstkoyuncu
18
Cigdem Seher Kasapkara
19
Sahin Erdol
20
Emine Goksoy
21
Halil Tuna Akar
ORCID: 0000-0003-1982-8046
22
Haluk Gümüş
ORCID: 0000-0001-7689-7131
23
Ahmet Hakan Ekmekci
24
Fatma Tuba Eminoglu
25
Nur Arslan
ORCID: 0000-0003-3151-3741
26
Haşmet Ayhan Hanağası
27
Ebru Canda
28
Emine Genc
29
Işıl Özer
30
Ayşegül Gündüz
ORCID: 0000-0003-2365-0850
31
Ertuğrul Kıykım
ORCID: 0000-0001-5170-5594
32
Çiğdem Aktuğlu-Zeybek
Anahtar Kelimeler
cerebrotendinous
chenodeoxycholic acid
CYP27A1
prognosis
xanthomatosis
Kurumlar
Akdeniz University, Faculty of Medicine
Antalya Turkey
Ankara Etlik City Hospital
Ankara Turkey
Ankara Üniversitesi
Ankara Turkey
Ankara Yildirim Beyazit University
Ankara Turkey
Aydin Adnan Menderes University
Aydin Turkey
Bağcilar Eğitim ve Araştirma Hastanesi
Istanbul Turkey
Bursa Uludağ Üniversitesi
Bursa Turkey
Çukurova Üniversitesi Tip Fakültesi
Adana Turkey
Dokuz Eylül Üniversitesi
Izmir Turkey
Ege University Medical School
Izmir Turkey
Eskişehir Osmangazi Üniversitesi
Eskisehir Turkey
Firat Üniversitesi Tip Fakültesi
Elazig Turkey
Gaziantep Üniversitesi
Gaziantep Turkey
Hacettepe Üniversitesi
Ankara Turkey
İstanbul Tıp Fakültesi
Istanbul Turkey
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine
Istanbul Turkey
Kafkas Üniversitesi
Kars Turkey
Marmara Üniversitesi Tip Fakültesi
Istanbul Turkey
Ondokuz Mayis University, Medical School
Samsun Turkey
Selçuk Üniversitesi
Selçuklu Turkey
University of Health Sciences
Istanbul Turkey
Metrikler
1
Atıf
32
Yazar
5
Anahtar Kelime