• 대한유전성대사질환학회지
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• 제13권2호
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• pp.89-97
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• 2013

Purpose: We retrospectively investigated individuals who hadbeen identified by neonatal screening as potential galactosemia patients to determine the etiology of galactosemia. Methods: One hundred fifty-three patients referred to Korea Genetics Research Center due to high galactose level detected by neonatal screening test between February 2005 and May 2013 were examined. Galactose and galactose-1-phosphate levels were measured by using a fluoro metric microplate reader. Lactose free diet was initiated immediately after confirmed by urine Clinitest. If reducing sugar was negative, we employed abdominal sonogram and echocardiogram to check for possible porto-systemic shunt. Results: Fifteen patients were diagnosed with galactosemia. One patient had galactokinase (GALK) deficiency; four had UDP galactose-4-epimerase (GALE) deficiency; two had citrin deficiency; and four had porto-systemic shunt. Two had unknown causes of galactosemia. Conclusion: In addition to genetic defects of GALT, GALK and GALE, citrin deficiency or porto-systemic shunt could also cause galactosemia. It is crucial to carry out differential diagnosis to determine the cause of galactosemia.

• 한국임상수의학회지
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• 제20권4호
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• pp.508-515
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• 2003

A 4-month-old 5.7 kg male Golden retriever with history of seizure, depression, lethargy and anorexia was referred to Veterinary Medical Teaching Hospital, Chungbuk National University. Hematologic examination revealed microcytosis and nonregenerative anemia. Serum chemical values showed increased serum ammonia (423 $\mu$mol/L), ALP (1101 U/L), r-GTP (13.9 U/L) and CPK (1454 U/L), and decreased total protein (4.9 g/dl) and BUN (1.6 mg/dl). Microhepatia was shown in survey abdominal radiographs. Color doppler ultrasonographic examination revealed dilated tortuous vein with turbulent flow within liver parenchyma. Intraoperative jejunoportography and intraoperative ultrasonography confirmed the location and size of single intrahepatic shunt vessel in the left medial liver lobe. Also, the anomalous vessel entering the caudal vena cava was identified beneath the diaphragm. The shunting vessel was ligated with using an Ameroid constrictor. General conditions, hematologic and serum chemical values resolved gradually after surgery. One month after surgery abdominal radiograph showed normal gastric axis and it was consistent whit the normal size liver. Normal echogenecity of liver and enlargement of portal vein were shown in ultrasonography. It is assumed that survey radiography and ultrasonography are useful for diagnosis of single intrahepatic shunt in a dog and especially jejunoportography vein portography and intraoperative ultrasonography are suitable for confirmation of the anatomic location and size of the shunting vessels.

• 한국임상수의학회지
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• 제16권2호
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• pp.514-518
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• 1999

Portosystemic shunts in 3 Dogs with respiratory sign of cough and with dementia signs characterized by hypersensitivity, salivation, and seizure were diagnosed at veterinary teaching hospital of Seoul National University. In radiographs, microhepatica was observed. In abdominal ultrasonography, abnormal intrahepatic connections between the portal vein and the systemic vessels and tortuous vascularity were found. There was no complication such as ammonium urate urolith in kidney or urinary bladder, These dogs were treated with medicine and protein-restricted diet.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권1호
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• pp.80-85
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• 2019

Purpose: Abernethy malformation is a rare condition, which was first described in 1793 as a congenital extrahepatic porto-systemic shunt (CEPS) directing splanchnic blood flow into the inferior vena cava. Eighty cases have been published so far that reported CEPS, while in Korea, very few cases have been reported. Through this study, we present 6 cases of patients diagnosed with CEPS at Samsung Medical Center and compare these with other such cases published in France and China. Methods: We reviewed clinical, laboratory, and imaging data of 6 children with CEPS in our pediatric clinic between 2004 and 2017. Results: A total of 6 children with CEPS was included in this study, namely, one with type 1a, two with type 1b, and three with type 2 CEPS. The most common presenting symptom was gastrointestinal bleeding (50.0%). Therapeutic interventions included shunting vessel ligation (16.7%) in type 2 CEPS and liver transplantation (16.7%) in type 2 CEPS patient with suddenly developed hepatic encephalopathy. Conclusion: There is no consensus guideline for the optimal management of patients with CEPS. Large-sample studies regarding CEPS are needed to evaluate the characteristics of patients with CEPS and determine the treatment guideline for CEPS.