Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation.
BACKGROUND
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme. This disease manifests with severe liver and kidney impairment and is associated with an increased risk of liver cancer. The aim of this study was to evaluate clinical, laboratory, imaging, and histopathologic characteristics in the children with HT1 who had referred for liver transplantation.


METHODS
The present retrospective study was conducted on 45 children with HT1 who had referred to Organ Transplantation Center affiliated to Shiraz University of Medical Sciences between March 2005 and March 2010.


RESULTS
There were 64.4% boys and 35.6% girls with mean age of 3.75±1.28 year (ranges from 2 months to 13 years). The most first clinical presentation was hepatic (80%) and the most prevalent physical findings were hepatomegaly (57.8%), splenomegaly (51.1%), ascites (42.2%), and jaundice (37.9%). The most relevant laboratory parameters were the high serum succinylacetone, alpha-fetoprotein, and tyrosine levels. The most common findings in the patient's abdominal ultrasonography were multiple hepatic nodules (75.6%) and inhomogeneous parenchymal echogenicity of liver (48.9%), while hyper and hypo attenuated nodules (60%) and non-homogeneous pattern of liver parenchyma (53.3%) were the most prevalent findings in abdominal computed tomography scan. In the histopathology of the liver, the most important finding was cirrhosis in all the patients. In this study, 14 patients (31.1%) received Nitisinone (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyklohexanedione; NTBC).


CONCLUSIONS
This study described clinical and laboratory findings in the children with HT1 who had referred for liver transplantation because of end-stage liver disease from all over country, which indicates delay in diagnosis and treatment of this disease. Considering the results of this study, newborn screening for this disease is highly suggested.
Gastroenterohepatology Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran ; Shiraz Transplant Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Seyed Mohsen
SM
Dehghani
Gastroenterohepatology Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Mahmood
M
Haghighat
Gastroenterohepatology Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran ; Shiraz Transplant Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Mohammad Hadi
MH
Imanieh
Gastroenterohepatology Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Hossein
H
Karamnejad
Gastroenterohepatology Research Center, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Abdorrasoul
A
Malekpour
Liver transplantation; newborn screening; succinylacetone; tyrosinemia