A novel homozygous NR1H4 mutation in idiopathic elevated transaminases
Archivos Argentinos de Pediatria, cilt.124, sa.1, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 124 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.5546/aap.2024-10617.eng
- Dergi Adı: Archivos Argentinos de Pediatria
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
- Anahtar Kelimeler: child, transaminases, loss of function mutation, genes
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
We describe a patient with a homozygous loss-of-function mutation in NR1H4, presenting with idiopathic mild elevation of transaminases. His presentation differs from the limited previously reported cases of progressive familial intrahepatic cholestasis type 5 (PFIC5). Case report: A 7-year-old boy was admitted to our outpatient clinic due to persistently elevated transaminases since 12 months of age. While PFIC5 is typically a rapidly progressive disease requiring liver transplantation, this patient’s laboratory results showed normal gamma-glutamyl transferase (GGT), international normalized ratio (INR), albumin, and alpha-fetoprotein (AFP) levels. Liver biopsy revealed only mild fibrosis. Over a two-year follow-up, he has remained stable with mild transaminase elevation. Conclusion: Infants with cryptogenic liver disease should be evaluated for NR1H4 mutations-associated PFIC5. This mutation may represent a novel metabolic etiology of idiopathic, mildly elevated transaminases.