Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I

Abstract

In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2‐(2‐nitro‐4‐trifluoro‐methylbenzoyl)‐1,3‐cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average dosage (1 mg kg−1), liver failure improved transiently. After 4 mo of treatment, with increased body weight, the dose had decreased to 0.7 mg kg−1, and diffuse cirrhotic changes in liver parenchyma and multiple nodules were visualized by ultrasonography. Multiple nodules in the liver parenchyma were differentiated from hepatocellular carcinoma by magnetic resonance imaging (MRI) using mangafodipir trisodium as a paramagnetic liver‐specific contrast agent. Augmentation of NTBC dosage resulted in a decrease in serum α‐fetoprotein levels and in significant regression of liver nodules on MRI. Conclusion: In HTI patients with a poor response to NTBC treatment and/or development of cirrhotic changes of liver parenchyma, augmentation of the recommended NTBC dosage may result in significant improvement of symptoms.

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

“…The third patient was treated very late and had to be transplanted because of cirrhosis. Some cirrhotic lesions may be reversible upon NTBC treatment (Crone et al 2003), but in that reported case treatment had started at 4 weeks of age, which probably explains such reversibility. In our series, cirrhosis was persistent in 6 patients.…”

Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases

“…Increase of AFP may be a reflection of insufficient metabolic control; however, further examination to exclude hepatocellular carcinoma (HCC) is usually warranted. [20,21] Patients with persistently high levels of AFP are probably at risk of developing cancer as already reported. [22] Another long-term hepatic complication of HT1 is cirrhosis.…”

Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)

“…La otra paciente comenzó el tratamiento a los 10 años, teniendo sintomatología desde los 8 meses de vida. En la publicación de Holme 12 de los 101 pacientes que recibieron NTBC antes de los 2 años, ninguno desarrolló hepatocarcinoma a los 2 años de tratamiento, lo que concuerda con lo descrito por otros autores 14,15 y lo observado en este estudio.…”