• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권1호
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• pp.37-40
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• 2014

Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

• Journal of Yeungnam Medical Science
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• 제12권1호
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• pp.75-83
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• 1995

광선치료는 신생아 황달의 효과적인 치료방법이나 광선에 의한 망막손상을 예방하기 위해 양안에 적절한 차폐를 실시하여야 한다. 광선치료후 급성기의 망막 손상정도와 차폐의 역할을 조사하기 위하여, 저자들은 토끼를 이용하여 광선치료시간, 조사방법, 차폐 유무 등을 변화 시키면서 광선치료를 실시하고 즉시, 간접검안경을 이용한 안저검사와 전자현미경 검사를 실시하여 광선치료후 수시간에서 수일후에 검사한 보고들과 비교 하였다. 모든 실험 토끼에서 안저검사상 정상소견을 나타 내었으나, 전자 현미경 검사상 12시간 이상 조사한 모든 실험군에서 광수용체 부종 및 망막내층의 부종 및 팽윤이 있었으나 광선치료후 수일이 경과한 후 검사하였던 경우에서 볼 수 있었던 광수용체 배열의 변화, 광수용체 내외절의 파괴, microvilli의 확장및 유착 등의 소견은 볼 수 없었고, 노출시간이 증가 할수록 손상의 정도가 심해졌으며, 광선 조사량이 같은 경우 간헐적인 방법으로 조사를 실시한 경우에서 망막손상이 심한 것으로 나타났다. 산동시킨 경우에서, 손상의 정도는 산동시키지 않은 경우와 비슷 하였으나 손상의 범위가 더 넓게 관찰 되었으며 차폐를 실시한 경우 망막손상을 예방할 수 있었다.

• Clinical and Experimental Pediatrics
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• 제61권12호
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• pp.387-391
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• 2018

Purpose: Subgaleal hemorrhage (SGH) is a rare but potentially fatal condition in newborns; however, few studies have reported on this condition. We aimed to identify the clinical characteristics and prognostic factors of SGH. Methods: We retrospectively reviewed the medical records of 20 neonates diagnosed with SGH between January 2000 and June 2017. Enrolled neonates were clinically diagnosed when they had tender fluctuant scalp swelling that crossed the suture lines. Results: Among 20 neonates with SGH, 12 were boys and 7 were girls; median hospitalization duration was $9.7{\pm}6.9days$. Fourteen neonates (70%) were born via vacuum-assisted vaginal delivery, and 4 via vacuum-assisted cesarean section. Of the neonates enrolled, half of them initially showed unstable vital signs, including apnea, desaturation, and cyanosis. Ten neonates had acidosis and 3 had asphyxia (pH<7.0). Intracranial lesions associated with SGH were observed in 15 neonates (75%), including subdural hemorrhage (50%), subarachnoid hemorrhage (15%), intraventricular hemorrhage (5%), cerebral infarct (15%), skull fracture (30%), and cephalohematoma (20%). Twelve neonates (60%) required transfusion, 5 (25%) had seizures, and 3 (15%) died. Eight neonates (40%) had hyperbilirubinemia (mean total bilirubin, $13.1{\pm}7.4$). The mean follow-up period was $8.4{\pm}7.5months$. At follow-up, 10 neonates (58.8%) were healthy with normal development, whereas 7 (41.2%) had neurological deficits. Conclusion: The morbidity rate was 41.2% due to severe metabolic acidosis. Anemia, hyperbilirubinemia, low Apgar scores, and subdural hemorrhage did not affect the prognosis. The long-term outcomes of neonates with SGH are generally good. Only arterial blood pH was significantly associated with death.

• Advances in pediatric surgery
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• 제1권2호
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• pp.204-208
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• 1995

Neonatal adrenal hemorrhage is frequently associated with birth trauma or perinatal hypoxia. Hemorrhagic necrosis of the adrenal glands is often found at autopsy and many small lesions are usually asymptomatic. A palpable abdominal mass and jaundice are the usual presenting signs. Ultrasound is very useful in the diagnosis of this lesion; however, if the mass has mixed echoic pattern, magnetic resonance imaging (MRl) is helpful for the differential diagnosis from neuroblastoma. We present the case of a female newborn who was found to have a abdominal mass on physical examination. The patient showed anemia and hyperbilirubinemia. An ultrasonogram disclosed a $3.8{\times}3.0$ cm suprarenal mass with mixed echoic pattern. The mass was initially suspected to be neuroblastoma. An abdominal computed tomogram was not able to differentiate the mass. Magnetic resonance imaging revealed markedly increased signal intensity on T1 and T2-weighted sequences. This finding was consistent with adrenal hemorrhage. Serial sonogram demonstrated the mass that resolved completely by 12 weeks of age.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권4호
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• pp.266-269
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• 2014

Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

• Parasites, Hosts and Diseases
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• 제22권1호
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• pp.72-77
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• 1984

A case of congenital malaria infection has been studied in a 46-day old female Korean infant. Her mother suffered from malaria infection during pregnancy in Uppervolta, Africa, and returned to Korea at the 9th month of gestation for delivery. At 39 days of age, the clinical features characterized by fever, irritability, pallor, jaundice and hepatosplenomegaly were developed. The laboratory data revealed a hemolytic anemia with thronbocytopenia, hyperbilirubinemia and increased hepatic enzyme values. A peripheral blood smear demonstrated intraerythrocytic malarial parasites and gametocytes of Plasmodium falciparum. She was successfully treated with quinine solfate (25mg/kg/day in three doses for 5 days) and trimethoprimejsulfamethoxazole (8mg/kg/day in two doses for 5 days) orally, and repeated blood smear had been negative for malaria. This report also signifies the first description of congenital malaria in Korea imported from Uppervolta in Africa. A brief review of related literature was made.

• Clinical and Experimental Pediatrics
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• 제50권9호
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• Journal of Yeungnam Medical Science
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• 제19권1호
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• pp.68-72
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• 2002

저자들은 신생아시기에서부터 담즙정체성을 나타낸 Dubin-Johnson 증후군 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권1호
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• pp.1-11
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• 2016

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.

• Clinical and Experimental Pediatrics
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• 제48권6호
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• pp.649-654
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• 2005

목 적 : 본 연구는 고빌리루빈혈증이 유도된 신생자돈에서 비 침습적인 NIRS을 통한 뇌의 혈역학적 변화에 대해 알아보고자 하였다. 방 법 : 17 마리의 신생자돈을 대상으로 정상 대조군(CG, n=6), 고빌리루빈혈증군(BG, n=7마리), 7-NI를 투여한 고빌리루빈 혈증군(NG, n=4)으로 무작위 구분하였다. 고빌리루빈혈증의 유도는 40 mg/kg의 빌리루빈을 농축괴로 정주한 후 곧 이어 30mg/kg/hr로 4시간 동안 지속 정주하여 혈중 빌리루빈 농도를 20 mg/dL 이상으로 유지하였고 7-NI는 빌리루빈을 농축괴로 투여한 전과 후에 50 mg/kg을 복막투여 하였다. 모든 실험군은 실험 기간 동안 뇌의 혈역학적 변화를 위해 NIRS로 감시하였고 뇌 조직을 적출하여 생화학적인 변화를 관찰하였다. 결 과 : 동맥혈의 base excss, pH, 평균 동맥압은 BG군과 NG군에서 CG군에 비해 유의하게 감소하였다. BG군에서 유의하게 뇌 조직의 $Na^+$, $K^+$-ATPase activity, ATP, PCr은 유의하게 감소하고 conjugated dienes는 유의하게 증가하였으나 NG 군은 이런 이상소견이 유의하게 완화되었다(P<0.05). 뇌 혈역학적 검사상 [$HbO_2$], [HbT], 및 [HbD]는 BG군에서 CG군에 비해 유의하게 감소하였고(P<0.05) NG군은 CG군과 차이가 없었다. 실험 종료시 $ScO_2$는 세 군간에 유의한 차이가 없었다. 결 론 : 고빌리루빈혈증이 유도된 신생자돈에서 뇌의 혈역학적인 변화를 비침습적인 NIRS의 감시를 통해 유용하게 관찰할 수 있었다.