• 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.

• Pediatric Infection and Vaccine
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• 제16권2호
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• pp.215-219
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• 2009

5-14세에 호발하는 마이코플라즈마 폐렴은 20-25%에서 폐외 증상을 일으키는 것으로 알려져 있으며 이 중 혈액계 질환에는 용혈성 빈혈, 혈소판 감소증, 혈구포식세포 증식증(hemophagocytosis) 등이 있다. 마이코플라즈마 폐렴에서의 냉항체에 의한 자가면역성 용혈로 용혈성 빈혈이 발생할 수 있으며, 이 때 항체의 역가와 용혈의 정도에 상관관계가 있을 수 있다. 저자들은 마이코플라즈마 폐렴에 의해 용혈성 빈혈이 발현된 유전성 구상 적혈구증 1례를 경험하였기에 보고하는 바이다.

• 대한수의학회지
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• 제28권2호
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• pp.327-329
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• 1988

Blood samples were obtained from Korean native cattle and dairy cattle of Holstein species in the slaughter house and methylene blue color tests were performed for the detection of the inherited susceptibitity to hemolysis. Glucose-6-phosphate dehydrogenase activities expressed as the optical density obtained by methylene blue color test were the highest as 0.54 in male Korean cattle, 0.62 in female Korean cattle and 0.72 in dairy cattle of Holstein species. Percent hemolysis, packed cell volume and plasma protein contents were measured and compaired with relation to the results of methylene blue color test and no correlation were observed in each.

• 한국환경성돌연변이발암원학회:학술대회논문집
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• 한국환경성돌연변이발암원학회 2002년도 Current Trends in Toxicological Sciences
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• pp.48-64
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• 2002

The primary recognized health risk from common deficiencies in glucose-6-phosphate dehydrogenase (G6PD), a cytoprotective enzyme for oxidative stress, is red blood cell hemolysis. Here we show that litters from untreated pregnant mutant mice with a hereditary G6PD deficiency had increased prenatal (fetal resorptions) and postnatal death. When treated with the anticonvulsant drug phenytoin, a human teratogen that is commonly used in pregnant women and causes embryonic oxidative stress, G6PD-deficient dams had higher embryonic DNA oxidation and more fetal death and birth defects. The reported G6PD gene mutation was confirmed and used to genotype fetal resorptions, which were primarily G6PD deficient. This is the first evidence that G6PD is a developmentally critical cytoprotective enzyme for both endogenous and xenobiotic-initiated embryopathic oxidative stress and DNA damage. G6PD deficiencies accordingly may have a broader biological relevance as important determinants of infertility, in utero and postnatal death, and teratogenesis.-Nicol, C. J., Zielenski, J., Tsui, L.-C., Wells, P. G. An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis.