Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation.
Ann Trop Paediatr
; 24(3): 259-65, 2004 Sep.
Article
en En
| MEDLINE
| ID: mdl-15479577
ABSTRACT
We present the clinical data of five infants with type I (hepato-renal) tyrosinaemia on NTBC therapy. All presented initially at the local hospital in the 1st year of life with progressive abdominal distension owing to hepato-splenomegaly and with radiological evidence of liver cirrhosis, except for one child who was diagnosed during screening because of an affected sibling. Age at commencement of NTBC therapy ranged from 6 to 30 months. All infants showed remarkable improvement within 2-6 months of starting NTBC treatment, except one who died 2 months after commencement of therapy from uncontrolled liver failure, severe coagulopathy and Streptococcus pneumoniae septicaemia. NTBC treatment along with a phenylalanine- and tyrosine-restricted diet has effectively reversed most clinical manifestations of this disease. To date, none of our patients has developed hepatic carcinoma and NTBC was well tolerated without side-effects. NTBC is costly but life-saving and is an obvious alternative to more hazardous liver transplantation.
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Bases de datos:
MEDLINE
Asunto principal:
Tirosinemias
/
Ciclohexanonas
/
Inhibidores Enzimáticos
/
Nitrobenzoatos
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Ann Trop Paediatr
Año:
2004
Tipo del documento:
Article
País de afiliación:
Omán