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Aflatoxin $B_1$이 계배 간조직의 미세구조에 미치는 영향
조자향,전향미,서숙재,Cho, Ja-Hyang,Cheon, Hyang-Mi,Seo, Sook-Jae 한국현미경학회 1996 Applied microscopy Vol.26 No.2
To investigate the effect of aflatoxin $B_1$, on survival rate and ultrastructure of liver during chick embryogenesis electron microscopic methods were used. After injection of aflatoxin $B_1$ into the yolk, ultrastructural changes in the liver of chicken embryo were observed. The results were as followed. 1. 12-day old chicken embryos were treated with single injection of aflatoxin $B_1$ with the dose of $0.0005{\mu}g,\;0.005{\mu}g,\;0.05{\mu}g,\;0.5{\mu}g,\;2.5{\mu}g,\;5.0{\mu}g$ each. Chicken embryos treated with the dose of $0.5{\mu}g$ of aflatoxin $B_1$ had survival rate of 22%. The embryos treated with $2.5{\mu}g$ of aflatoxin $B_1$ hardly survived. 2. Chicken embryos treated with $0.05{\mu}g$ of afatoxin $B_1$ had hatched in 30%, but once hatched, they all survived. 3. After administration of $0.05{\mu}g$ of aflatoxin $B_1$ into the 12-day old chicken embryo, the electron microscopic studies were examined during development stages. The nuclei of hapatocytes became irregularly shaped and the structures of endoplasmic reticulum were changed to spherical types at 20-day old chicken embryo. Also, mitochondria became to be dilated and severe fibrosis was induced in the cytoplasm. However, the hepatocytes became almost normal in 30-day old young chicken.
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조자향,김유미,최진호,이범희,김구환,유한욱,Cho, Ja Hyang,Kim, Yoo-Mi,Choi, Jin-Ho,Lee, Beom Hee,Kim, Gu-Hwan,Yoo, Han-Wook 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.1
당원병 Ib형은 드문 유전 대사 질환 중 하나로 SLC37A4 유전자의 장애로 인해 발생한다. 특징적으로 간비대, 저혈당, 고젖산혈증, 고지혈증, 고뇨산증의 임상양상을 보인다. 총 3명(남자 1명, 여자 2명)이 포함되었고 의무기록을 후향적으로 분석하였다. 평균 진단시 나이는 각각 8개월, 26개월, 10세이다. 2명의 환자가 영유아기에 간비대, 저혈당 등으로 발견되었고, 다른 환자는 사춘기에 성장 발육 부전으로 인한 저신장으로 진단되었다. 유전학적 검사에서 c.412T>C (p.Trp 138Arg) (3/6 alleles, 50.0%)가 가장 흔했고 다음으로 p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele)가 확인되었다. 요산 강하제, 생 옥수수 전분 복용을 시작하였으며, 모든 환자가 중성구 감소 소견이 관찰되어 G-CSF 투여하였다. 이들 모두 구내염, 장염, 뇌농양과 같은 반복적인 감염이 관찰되었다. 또한 2명은 심한 골다공증으로 칼슘 보충제가 필요하였다. 비교적 일찍 진단된 2명에 비해 10세에 진단된 경우 중증 감염 및 간과 신장의 합병증을 보이고 있었다. 통계학적으로 유의하지 않지만, 비교적 전자의 환자들이 비교적 예후가 좋았다. 본 연구를 통해 동시에 한국의 GSD Ib형 환자의 임상적, 생화학적, 분자유전학적인 특징과 후기 합병증에 대해 보고하는 바이다. Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.
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김자혜,조자향,최진호,이범희,유한욱,Kim, Ja Hye,Cho, Ja Hyang,Choi, Jin-Ho,Lee, Beom Hee,Yoo, Han-Wook 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.1
Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.
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