Rapidly progressive cirrhosis and portal hypertension in a Tunisian child with PFIC5 due to a novel homozygous NR1H4 frameshift mutation - 04/08/26
Doi : 10.1016/j.clinre.2026.102896
Manel Hsairi a, ⁎ 
, Manel Feki b, Manel Guirat c, Mouna Loukil b, Slim Charfi d, Faiza Safi b, Lamia Gargouri a, Boudour Khabou e
, Manel Feki b, Manel Guirat c, Mouna Loukil b, Slim Charfi d, Faiza Safi b, Lamia Gargouri a, Boudour Khabou e a Department of pediatrics B, Hedi Chaker university hospital, Faculty of medecine, University of Sfax, Sfax, Tunisia
b Pediatrics intensive care Department, Hedi Chaker University Hospital, Faculty of medecine, University of Sfax, Tunisia
c Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Biotechnology Center of Sfax, Tunisia; Faculty of Medicine, University of Sfax, Sfax, Tunisia
d Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Faculty of Medicine, University of Sfax, Sfax, Tunisia
e Higher Institute of Biotechnology of Beja, University of Jendouba; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Tunisia
⁎ Corresponding author.
Highlights |
• | A novel homozygous NR1H4 frameshift mutation (c.137_140del) is identified. |
• | PFIC5 leads to severe cirrhosis as early as 8 months of age. |
• | The absence of clinical jaundice does not exclude agressive liver fibrosis. |
• | Elevated alfa-foetoprotein and normal Gamma-GT are key markers for early PFIC5 daignosis. |
• | Genetics is vital to manage rapid disease progression in infants. |
Plan
© 2026
Elsevier Masson SAS. Tous droits réservés.
Vol 50 - N° 8
Article 102896- octobre 2026 Retour au numéro
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