• 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.

• 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.

• Clinical and Experimental Pediatrics
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• 제49권12호
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• pp.1301-1307
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• 2006

목 적 : 신생아기의 청력 소실은 그 빈도가 높으며 조기 발견 및 조기 치료가 예후를 결정하는데 중요하다. 신생아 집중치료실에 입원했던 신생아들은 일반 신생아에 비해 청력 소실의 빈도가 더 높은 것으로 알려지고 있다. 이에 저자들은 신생아 집중치료실에 입원했던 신생아를 대상으로 청력 소실의 발생 빈도와 위험 인자 및 청력 소실의 양상을 조사하기 위해 이 연구를 시행하였다. 방 법 : 2002년 7월부터 2005년 6월까지 3년간 경북대학교병원 신생아 집중치료실에 입원한 환아를 대상으로 ABR 검사를 시행하여 이들의 청력 소실 정도와 이와 관련된 임상 소견을 조사하고 추적 관찰을 시행하였다. 결 과 : 연구 기간 동안 ABR 검사를 받은 환아는 474명으로 총 입원아의 54.0%였고, 검사를 받은 신생아의 13.5%인 64명이 ABR 검사에 이상 소견을 보였다. 이들 64명의 귀 128례의 청력 소실의 양상은 편측 정상이 37례(28.9%)이고 경증, 중등도, 중증 및 초중증 청력 소실이 각각 43례(33.6%), 36례(28.1%), 2례(1.6%) 및 10례(7.8%)로 중증 이상의 청력 소실 빈도는 9.5%였다. 미숙아, 저출생 체중아 및 극소 저출생 체중아, 신생아 가사, 두부 안면 기형 및 amikacin의 15일 이상 사용이 ABR 비정상군에서 유의하게 많았다(P<0.05). 고빌리루빈혈증 환아에서 최고 빌리루빈 수치, 광선치료의 기간과 교환수혈의 시행 여부 모두 ABR 정상군과 비정상군 사이에 유의한 차이를 보이지 않았다. ABR 비정상군 중 15명에서 생후 $8.8{\pm}4.4$개월에 시행한 추적 ABR 검사는 80.0%에서 호전 혹은 정상화되었다. 결 론 : 신생아 집중치료실에 입원했던 신생아는 청력 소실의 위험이 높으므로 이에 대한 체계적이고 효과적인 청력 평가와 관리가 필요하다.

• Journal of Chest Surgery
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• 제32권8호
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• pp.702-708
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• 1999

배경: 미숙아 동맥관 개존증의 약물적 치료로 Indomethacin을 사용하는데 이때 발생하는 합병증, 부적응증, 또는 동맥관이 다시 열릴 경우 외과적으로 교정함으로써 수술에 따른 위험성 및 합병증이 적고 지속적인 동 맥관 폐쇄가 가능하다. 대상 및 방법: 1996년 4월부터 1998년 8월까지 동맥관 개존증을 동반한 미숙아중 수 술 당시의 체중이 1.5 kg 이하인 11명의 환아(남아: 5, 여아: 6)를 대상으로 하였다. 술전 동반질환으로 선천 성 심질환(7), 유리질막증(6), 폐렴(4), 뇌실내 출혈(4), 기흉(3), 고빌리루빈혈증(2), 괴사성 장염(2), 신부전증 (1), 간질(1), 수두증(1) 등이 있었다. 사용된 외과적 술식은 헤모클립을 사용한 경우(8)와 동맥관을 결찰한 경 우(3)가 있었다. 동맥관의 크기는 3~6 mm(5.0$\pm$1.2)였다. 결과: 동맥관을 폐쇄한후 수축기 및 확장기 혈압이 상승하였고 심박동수는 감소하였다. 동맥혈 개스 결과도 호전되었다. 수술과 관련된 합병증은 없었다. 술후 6명의 환아에서 호흡기 증상의 호전과 함께 인공호흡기이탈이 가능했고 모두 외래 추적 관찰중이다(3개월~ 12개월). 술후 5명의 환아가 사망하였는데 사망 원인은 유리질막증(2례), 기관지폐 이형성증과 폐렴(1례), 패 혈증(1례), 심부전증과 특발성 호흡곤란증(1례)이었다. 결론: Indomethacin에 부적응증 혹은 합병증이 있거나, Indomethacin용법에 효과가 없거나 또는 혈역학적으로 의미있는 단락을 동반하는 미숙아 동맥관의 우선 치료 법은 조기 외과적 교정술이다.

• 한국임상수의학회지
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• 제39권5호
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• pp.207-216
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• 2022

Canine babesiosis has been scarcely investigated in the Republic of Korea (ROK). Although it is known that Babesia gibsoni is its primary causative agent, its clinical presentation has not been completely clarified in the ROK. Consequently, the aim of this study was to evaluate the clinical appearance of this parasitic infection based on the anamnesis of the patient and compare of hematological and biochemical test results. Four hundred whole blood samples from patients with a presumptive diagnosis of tick-borne disease were analyzed by polymerase chain reaction (PCR) to amplify the Babesia spp. 18S rRNA gene and by a rapid diagnostic test kit (VetAll Laboratories^®) to detect B. gibsoni seroreactive animals. Thirty-six (9.0%) dogs were PCR-positive but only 24 (6.0%) were seropositive. The investigation revealed that all the courses of the disease are present in the ROK, with the acute course being predominant. The acute course tends to consist of inappetence, lethargy, pyrexia, gastrointestinal symptoms, and occasionally hematuria. It also occurs with common hematological abnormalities, such as thrombocytopenia and anemia, and to a lesser extent biochemical abnormalities, such as hyperbilirubinemia, hypoalbuminemia, and elevated liver enzymes. This research shows that B. gibsoni is an endemic hemoparasite capable of producing a variety of clinical manifestations in dogs. For its accurate diagnosis, a descriptive history of the clinical signs, hematology, and biochemical profile of the patient, along with a well-performing PCR assay, are essential. These findings will help in planning pragmatic preventive strategies against this potent threat in the ROK.