• 대한유전성대사질환학회지
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• 제6권1호
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권2호
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• pp.147-151
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• 2016

Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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• pp.262-266
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• 1999

Obstruction of the extrahepatic bile ducts is the most common cause of conjugated hyperbilirubinemia in early infancy. More than 90% of such obstructive lesions are accounted for by extrahepatic biliary atresia. A rare lesion is obstruction of the common duct by impacted, thickened secretions and bile. Bile plug syndrome is defined as extrahepatic obstruction of the bile ducts by bile sludge in term infants without anatomic abnormalities, congenital chemical defects of bile, or hepatocellular lesions. Obstruction of extrahepatic ducts by plugs of biliary material apperas to be due to the inspissation and precipitation of bile and mucus within the lumen of the ducts. Cholestasis and precipitation of bile develop in association with abnormal composition of bile in cystic fibrosis, hepatocellular damage, prolonged erythroblastic jaundice, altered biliary dynamics with total parenteral nutrition, gut dysfunction, diuretic therapy, exchange transfusions and perinatal hemolysis. In those cases, the term inspissated bile syndrome is used. The clinical and laboratory findings in bile plug syndrome are identical to those observed in biliary atresia and choledochal cyst. The diagnosis can be suspected based on the findings of clinical and laboratory examinations together with hepatobiliary imaging, ultrasonography, radionuclide scan and liver biopsy. We experienced a case of spontaneous resolution of bile plug syndrome in a 4-year-old girl. We report this case with brief review related literatures.

• 대한임상독성학회지
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• 제6권2호
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• pp.134-137
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• 2008

Methylene blue is the first choice for treating methemoglobinemia, any increase in normal methemoglobin levels. Methemoglobin is an abnormal hemoglobin in which the iron has been oxidized to the ferric(+3) state, making it incapable of oxygen transport. Methemoglobinemia most commonly results from exposure to oxidizing chemicals, but may also arise form genetic, dietary, or even idiopathic etiologies. Patients with low methemoglobin levels are asymptomatic, but high methemoglobin levels can lead to headaches or even death. Methylene blue, the first-line treatment for methemoglobinemia, can also produce hemolytic anemia. Jaundice or dark urine during methylene blue treatment may indicate hemolytic anemia. A 47-year-old female patient with a history of depressive mood disorder developed significant methemoglobinemia after ingesting a Propanil overdose. Twenty-two hours after ingestion, methemoglobin levels in the blood were 73.2%. She was treated with intravenous methylene blue in the therapeutic range (1 mg/kg every 4 h for 3days). The 2nd day after methylene blue use, methemoglobin levels in the blood were 33%, and the 5th day decreased to 10% with better general condition. The patient had hyperbilirubinemia after hemolytic anemia, but she recovered completely.

• Perinatology
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• 제29권4호
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• pp.189-194
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• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.

• 대한영상의학회지
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• 제83권5호
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• pp.966-978
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• 2022

신생아와 유소아 황달은 다양한 원인에 의하여 발생하며, 특히 생리적 황달의 경우는 만삭아의 반수 이상에서 관찰되는 매우 흔한 질환이다. 생후 2주 이후 황달이 지속되거나 새로이 발생하는 경우, 담즙 정체의 가능성을 고려하여 총/직접 빌리루빈을 측정하게 되며, 담즙 정체로 판단되는 경우 외과적 치료를 요하는 간외 담도 폐쇄 질환을 감별하려는 목적으로 영상검사가 의뢰된다. 본 종설에서는 신생아 및 유소아에서 황달을 발생시킬 수 있는 질환들을 분류하고, 질환들을 진단하기 위한 여러 영상 검사들의 종류와 방법 및 정상 소견들을 기술하며, 연령별로 흔히 발생하는 각 질환에 대한 영상 소견들을 소개하고자 한다.

• 한국간담췌외과학회지
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• 제28권1호
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• pp.53-58
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• 2024

Backgrounds/Aims: Double duct sign (DDS) (dilated common bile and pancreatic duct) is synonymous with pancreatic head/peri-ampullary tumor (PHPAT). There is limited evidence on whether incidental DDS (I-DDS) is associated with an increased risk of malignancy. This study aimed to evaluate 5-year outcomes of I-DDS. Methods: Patients were categorized according to their risk of malignancy. 'Low-risk' patients, including those with I-DDS between 2010 and 2015, were analyzed in this study. The primary outcome was incidence of PHPAT within five years of identification of DDS. Histology results from endoscopic ultrasound-guided biopsy were considered diagnostic. Secondary outcomes were incidence of benign causes, extent of follow-up investigations, and clinical indicators of malignancy in patients with DDS. Results: Among 103 patients with DDS, 20 had I-DDS. Subsequent follow-up of these 20 patients found no patient with PHPAT, two (10%) patients with chronic pancreatitis, and 18 (90%) patients with no cause found. The median follow-up duration for 'low-risk' patients was 7.3 years (range, 6-11 years). The mean number of follow-up investigations per patient was two (range, 0-9). Investigations included computed tomography (n = 27), magnetic resonance cholangiopancreatography (n = 23), endoscopy (n = 16), and ultrasound (n = 14). Patients with jaundice were more likely to have malignancy (p < 0.01). Those with abdominal pain were more likely to have a benign cause (p < 0.01). Hyperbilirubinemia and/or deranged liver enzymes and raised CA19-9 were more likely to be associated with PHPAT (p < 0.01). Conclusions: Patients with I-DDS have a low risk of developing PHPAT within five years.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제27권4호
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• pp.224-235
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• 2024

Purpose: Biliary atresia (BA) is the leading cause of neonatal cholestasis (25-45%). The primary treatment is hepatic portoenterostomy (Kasai procedure), but only 20-40% provide long-term benefits. This study aimed to develop a predictive model for surgical efficacy by comparing preoperative and early postoperative indicators in infants with different outcomes. Methods: We enrolled 166 infants with BA (93 girls, 73 boys) who underwent the Kasai procedure between September 2002 and December 2021, dividing them into favorable or adverse outcome groups. Over 40 parameters were measured, and the diagnostic significance of the prognostic model was evaluated. Results: Kasai surgery was efficacious in 69 patients (42%) and non-efficacious in 97 (58%). Our model assesses efficacy by day 14 after surgery, improving on the <34 µmol/L direct bilirubin threshold established for 3-6 months after the procedure. Including the Desmet fibrosis score refined the model. Conclusion: Blood cholesterol below 5.41 mmol/L, direct bilirubin below 56.3 µmol/L on postoperative days 14±3, and a low Desmet score indicate a high probability of efficacious Kasai surgery in infants with BA.

• Journal of Veterinary Science
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• 제25권4호
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• pp.51.1-51.11
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• 2024

Importance: Feline calicivirus (FCV)-associated viral systemic disease (VSD) is a severe systemic disease caused by virulent FCV strains and has a very poor prognosis. Objective: To evaluate the clinical characteristics of a nosocomial FCV-VSD outbreak involving 18 cats in Korea. Methods: Medical records of cats diagnosed with FCV-VSD from March to September 2018 at a referral veterinary hospital were reviewed. The patient's signalment, history, clinical features, diagnosis, treatment, and prognosis were evaluated. Results: Two outbreaks involving 18 cats diagnosed with FCV-VSD occurred over a 6-month period at a referral hospital in Korea. Anorexia, lethargy, fever, and limb edema were the most commonly observed clinical symptoms. Lymphopenia and macrothrombocytopenia were the most common hematological findings, and hyperbilirubinemia and increased levels of aspartate aminotransferase, creatine kinase, and serum amyloid A were the most frequent results of serum biochemistry. FCV was detected by reverse transcription polymerase chain reaction in 11 patients and the remaining 7 were suspected with FCV-VSD. The overall mortality rate was 72.2%. The hospital was closed and disinfected twice, and no additional outbreaks have occurred since the last patient. Conclusions and Relevance: The clinical and diagnostic characteristics and outcomes of FCV-VSD described in this study can be used to recognize and contain infectious diseases through quick action. To the best of the authors' knowledge, this is the first report of a nosocomial outbreak of FCV-VSD in Asia.

• Journal of Hospice and Palliative Care
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• 제18권2호
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• pp.120-127
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• 2015

목적: 국내 말기암환자를 대상으로 혈중 vitamin D 농도를 측정하고, 생존기간과의 관련성에 대하여 확인해 본다. 방법: 2012년 5월부터 15개월 동안, 국내 일개 병원의 말기암환자 96명을 대상으로 후향적 의무기록 조사를 시행하였다. Vitamin D 결핍에 영향을 미치는 요인들을 파악하기 위해 단순 로지스틱 회귀분석과 다중 로지스틱 회귀분석을 실시하였고, vitamin D가 생존기간에 미치는 영향을 파악하기 위해 다변수 분석으로 Cox's proportional hazard regression analysis를 실시하였다. 결과: 대상자의 평균 연령은 $67.06{\pm}13.77$세였고, 모든 대상자가 ECOG PS 3점 이상이었으며 혈중25(OH)D 농도는 평균 $8.60{\pm}7.16ng/ml$였다. 3명(3.1%)만이 vitamin D 충분상태(혈중 25(OH)D 농도${\geq}30ng/ml$)였으며, 5명은 vitamin D 상대적결핍상태(혈중 25(OH) 농도 20~30 ng/ml)였고, 13명(13.5%)은 vitamin D 결핍(혈중 25(OH)D 농도 10~20 ng/ml), 75명(78.1%)은 vitamin D 중증결핍상태(혈중 25(OH)D<10 ng/ml) 였다. 혈중 빌리루빈 농도가 1.2 mg/dl 이상인 경우 vitamin D 중증결핍과 관련이 있었다(Odds ratio, OR=5.041; P=0.039). 혈중 빌리루빈 농도가 높을수록 혈중 vitamin D 농도가 낮았으며, 고빌리루빈혈증인 환자는 vitamin D 중증결핍에 속할 위험이 더 크고(OR=18.476, P<0.05), 중앙생존기간도 유의하게 짧았다. Vitamin D 중증결핍인 경우 추정된 중앙생존기간은 짧았으나 통계적 유의성은 없었다. 다변량 분석결과에서 vitamin D 중증결핍은 사망의 위험인자가 아니었다. 결론: 말기암환자에서 혈중 vitamin D 결핍은 매우 심각하였으나, vitamin D 중증결핍이 생존기간에 영향을 미치지는 않았다.