Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for Liver Transplantation

摘要: BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency fumarylacetoacetate hydrolase enzyme. This disease manifests with severe liver and kidney impairment associated an increased risk cancer. The aim this study was to evaluate clinical, laboratory, imaging, histopathologic characteristics in the children HT1 who had referred for transplantation. METHODS: present retrospective conducted on 45 Organ Transplantation Center affiliated Shiraz University Medical Sciences between March 2005 2010. RESULTS: There were 64.4% boys 35.6% girls mean age 3.75±1.28 year (ranges from 2 months 13 years). most first clinical presentation hepatic (80%) prevalent physical findings hepatomegaly (57.8%), splenomegaly (51.1%), ascites (42.2%), jaundice (37.9%). relevant laboratory parameters high serum succinylacetone, alpha-fetoprotein, tyrosine levels. common patient's abdominal ultrasonography multiple nodules (75.6%) inhomogeneous parenchymal echogenicity (48.9%), while hyper hypo attenuated (60%) non-homogeneous pattern parenchyma (53.3%) computed tomography scan. In histopathology liver, important finding cirrhosis all patients. study, 14 patients (31.1%) received Nitisinone (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyklohexanedione; NTBC). CONCLUSIONS: described transplantation because end-stage over country, which indicates delay diagnosis treatment disease. Considering results newborn screening highly suggested.