Hepatocyte transplantation is an investigational alternative to orthotopic liver transplantation to treat liver based inborn errors of metabolism. We report successful hepatocyte transplantation in a 4-year-old girl with infantile Refsum disease. Hepatocytes were isolated from the left liver segment of two male donors using a classic two-step perfusion method. Fresh cells were transplanted first and then cryopreserved cells, for a total of 2 billion cells. Total bile acids and abnormal dihydroxycoprostanoïc acid markedly decreased in the patient's serum, indicating resolution of cholestasis and re-population of liver cells. Pipecholic acid decreased by 40% and c26:c22 fatty acid ratio by 36% after 18 months. Donor chromosomes sequences were detected on biopsy posttransplant, indicating engraftment. Hepatocyte transplantation is a safe and promising technique in the treatment of rare inborn errors of metabolism. Future improvements of cell viability and prevention of apoptosis may increase engraftment and subsequent re-population.
Congenital lung malformations, primary and secondary, contribute to an important portion of pediatric thoracic surgery. One purpose of this report is to outline the close relation in terms of embryology and clinical presentation of congenital parenchymatous pulmonary malformations. In a retrospective study we also aim to evaluate our experience with the diagnosis and surgical management of congenital parenchymatous bronchopulmonary malformations and to compare our data with the literature. From January 1979 to December 1996 a series of 48 patients, 30 males (62.5%) and 18 females (37.5%), were operated on for congenital bronchopulmonary malformations. Pulmonary sequestration, bronchogenic cysts, congenital lobar emphysema, and congenital cystic adenomatoid malformation were seen in 16, 13, 5, and 14 patients, respectively. The first clinical symptoms occurred at a mean age of 8.8 years (1 day to 62 years), and the mean age at the time of surgical intervention was 9.3 years (1 day to 62 years). The maximum time between first symptoms and surgical treatment was 27 years. A lobectomy was performed in 22 cases; in the other patients more lung-preserving surgery such as enucleation or sequestrectomy was performed. Only one postoperative death occurred following lobectomy for pulmonary sequestration, and it was due to pulmonary hypoplasia and pulmonary hypertension. Eleven other patients presented with postsurgical complications: pneumothorax (n = 5), pleural effusion (n = 3), prolonged air leak (n = 2), portal vein thrombosis (n = 1), and hemorrhage requiring reintervention (n = 1). We conclude that any thoracic cystic lesion expanding on chest radiography should be an indication for surgical resection, even if asymptomatic, because of the risk of pulmonary compression, infection, or malignant degeneration. In the few cases of a fetal intrathoracic mass, prenatal diagnosis and intrauterine intervention may be indicated, and these indications are also discussed.
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