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• W29386480 abstract "Successful orthotopic liver transplantation provides a unique opportunity to study systemic effects of hepatic-based metabolic disease and to potentially provide a cure for previously often fatal illnesses. From May 9, 1981 through the next 12 months, 23 patients received orthotopic liver transplants. Children ranged from 7.5 months to 18 years of age. Each patient received cyclosporin-A (CyA) and steroids. Eight of the 23 patients had identifiable metabolic disease, and 3 of the 8 had associated hepatic neoplasms. Seven of the 8 patients had evidence of correction of the underlying metabolic defect or showed clinical improvement. The eighth patient died prior to documenting correction of the defect.Metabolic indications for transplantation included: alpha-1-antitrypsin (A1AT) deficiency (4), glycogen storage disease type I (GSD I) (with adenomas) (1), herediatry tyrosinemia (with hepatocellular carcinoma) (1), Sea Blue Histiocyte syndrome (with hepatocellular carcinoma) (1), and Wilson’s disease (1). Two of the 8 patients died. Each had A1AT deficiency. One died 6 weeks after transplant due to an hepatic abscess, and the other died 3.5 months after transplant secondary to a cerebral hemorrhage.Patients with A1AT deficiency are summarized in Table 1. All patients had end-stage liver disease and/or severe portal hypertension. Three of the 4 patients had abnormally low levels of A1AT (2 with Pi ZZ and 1 with Pi SZ). Each of these 3 patients had periodic acid-Schiff stain positive and diastase-resistant granules in hepatocytes. A fourth patient, OT 226, had a normal A1AT level and was Pi MZ. Her liver did not demonstrate the characteristic intracytoplasmic granules. Post-transplant, 3 of the 4 patients had normal A1AT levels and, where measured, assumed the Pi type of the donor. OT 203 died prior to measuring his A1AT level and Pi type. Notably, the 2 patients who died had no evidence of granule accumulation in transplanted liver.Table 1Liver Transplantation For Metabolic DiseaseGSD I was diagnosed in OT 218 after presenting with acidosis, hypoglycemia, growth failure, and hepatomegaly. She had a sibling who died of the same disease at 2.5 years of age. At 8 years of age she underwent a portocaval shunt, which helped her growth but did not improve her hypoglycemia. She required frequent daytime feedings and continuous nocturnal nasogastric feedings. She developed progressive hepatomegaly, poor growth, and hepatic tumor nodules. She hemorrhaged into the tumor nodules, developed encephalopathy, and was transplanted in February of 1982.Postoperatively she developed mild hyperglycemia that resolved within 48 hr. She maintained clinically normal glucose homeostasis on 3 normal meals per day and no nocturnal feedings. Six weeks posttransplant, detailed carbohydrate metabolic studies confirmed a normal 24-hr fast, normal oral glucose tolerance test, and a brisk response to parenterally administered glucagon. She is now leading a virtually normal life at home.Hereditary tyrosinemia, Fanconi’s renal tubular disease, and rickets were diagnosed in OT 206 at 1 year of age. Strict dietary therapy normalized her serum amino acids and corrected the renal defect with healing of her rickets. In July 1981 she was discovered to have hepatocellular carcinoma and developed progressive liver failure with markedly elevated alpha-fetoprotein (AFP) levels. She was transplanted on 11/13/81. Urine and plasma amino acids remained normal postoperatively without any dietary restriction, and her AFP levels fell to zero by 3 weeks after transplant. In addition, there has been no evidence of recurrent tumor. She has had problems of hypertension and rejection, both of which have been controlled, and is now leading a virtually normal life.OT 222 was diagnosed as having a variation of the Sea-Blue Histiocyte syndrome in November 1981 after evaluation for progressive hepatic disease and a degenerative neurologic disorder. Hepatosplenomegaly was discovered at 2–3 months of age, and evaluation for an etiology was unfruitful. Liver enzymes were twice normal. Bone marrow and ophthalmologic exams were normal. Liver biopsy at 5 months of age demonstrated cirrhosis without cholestasis. She had a single myoclonic seizure at that time. She developed normally until 5 years of age when parents noted an unsteady gait, tremor, and a paresis of upward gaze. She had hyperactive deep tendon reflexes, mild hypertonicity, dysdiadochokinesia, extensor plantar reflexes, mild truncal ataxia with a normal mental age. At 6 years of age she developed cogwheel rigidity. Repeat ophthalmologic exam and ceruloplasmin were normal, and CAT scan of the head demonstrated mild cerebral atrophy. Electroencephalogram was consistent with a metabolic disorder. Leukocyte lysozomal enzymes, hepatic sphingomyelinase, and hepatic sphingomyelin were normal. An occult hepatocellular carcinoma was discovered without evidence of metastases. In November 1981, a bone marrow demonstrated foamy histiocytes characteristic of Sea-Blue Histiocyte syndrome. On 2/24/82, OT 222 underwent hepatic transplantation without complications save for moderate postoperative hypertension. She was discharged 3 weeks posttransplant on CyA and prednisone.Nearly 4 months posttransplant her neurologic status has significantly improved. Prior to transplant she could not stand independently from a chair and could walk short distances only with the aid of a walker. Peg board exercises were extremely frustrating. Currently, she is walking short distances without the walker, only holding someone’s hand, and is able to get up independently from her seat. She can place pegs in the board with greater facility. Teachers describe her as having more stamina, being more vocal, and socially interactive. Current liver enzymes and bilirubin are normal.OT 202 was an almost 13-year-old boy in a gifted class in school when he developed subacute hepatitis diagnosed as Wilson’s disease. Despite d-penicillamine therapy, he developed progressive liver failure, ataxia and cogwheel rigidity, gastrointestinal hemorrhage, ascites, encephalopathy, and hepatorenal syndrome requiring dialysis. On 9/20/81 he underwent orthotopic liver transplantation with rapid improvement in his sensorium and renal failure. His hospital course was marked by gradual improvement in his neurologic function, although a mild right hemiparesis was noted. He had persistently high urinary copper excretion (182–434 μg Cu/g Cr) with normalization of ceruloplasmin (27 mg/dl) by 4 weeks posttransplant. Penicillamine challenge did not significantly increase urine copper excretion. Currently, the patient is in his regular advanced class in school and has only a mild bilateral footdrop as his only neurologic residua. Liver function tests are normal on CyA and prednisone." @default.
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• W29386480 date "1983-03-01" @default.
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• W29386480 title "Orthotopic Liver Transplantation in Children With Hepatic-Based Metabolic Disease." @default.
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