先天性溶血性黄疸
WordNet
- distort adversely; "Jealousy had jaundiced his judgment"
- yellowing of the skin and the whites of the eyes caused by an accumulation of bile pigment (bilirubin) in the blood; can be a symptom of gallstones or liver infection or anemia (同)icterus
- affect with, or as if with, jaundice
- showing or affected by prejudice or envy or distaste; "looked with a jaundiced eye on the growth of regimentation"; "takes a jaundiced view of societies and clubs"
- affected by jaundice which causes yellowing of skin etc (同)icteric, yellow
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- relating to or involving or causing hemolysis; "hemolytic anemia" (同)haemolytic
PrepTutorEJDIC
- 黄疸(おうだん) / ひがみ,ねたみ,偏見 / 〈人〉‘に'偏見をもたせる;〈見解など〉‘を'ゆがめる
- 黄疸にかかった / ひがんだ
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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English Journal
- A new simple approach for the determination of pyrimidine 5'-nucleotidase activity in human erythrocytes using an ELISA reader.
- Warang P, Kedar P, Ghosh K, Colah R.SourceDepartment of Haematogenetics, National Institute of Immunohaematology (Indian Council of Medical Research), Parel, Mumbai, India.
- International journal of laboratory hematology.Int J Lab Hematol.2012 Jun;34(3):232-6. doi: 10.1111/j.1751-553X.2011.01381.x. Epub 2011 Nov 14.
- INTRODUCTION: Pyrimidine 5' nucleotidase type I (P5'N-1) deficiency is the most frequent abnormality of cell nucleotide metabolism causing hereditary non spherocytic hemolytic anemia (HNSHA). The aim of this study was to develop a simple method of determination of P5'N-1 activity in human erythrocyt
- PMID 22078096
- [Hypoplasia of the internal carotid artery: a rare cause of cerebral ischemic stroke in children].
- Sfaihi L, Boukedi A, Aloulou H, Kammoun T, Mnif Z, Hachicha M.SourceCHU Hédi Chaker, Sfax, Tunisie. sfaihilamia@yahoo.fr
- Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie.Arch Pediatr.2010 Dec;17(12):1657-60. doi: 10.1016/j.arcped.2010.09.017. Epub 2010 Oct 30.
- Hypoplasia of the carotid arteries is a rare congenital anomaly which, when symptomatic, presents as cerebral ischemia or hemorrhage. We report a case of hypoplasia of the carotid arteries revealed by cerebral ischemic stroke in an infant with hereditary spherocytosis. The diagnosis was confirmed by
- PMID 21036564
- [Congenital hemolytic jaundice].
- Morisaki T, Fujii H, Miwa S.
- Nihon rinsho. Japanese journal of clinical medicine.Nihon Rinsho.1985 Aug;43(8):1678-83.
- PMID 4057619
Japanese Journal
- 臨床研究・症例報告 新生児期に早発黄疸で発症し,eosin-5'-maleimide binding testが診断に有用であった遺伝性球状赤血球症例
- Ｕｐｓｈａｗ‐Ｓｃｈｕｌｍａｎ症候群患者への小分け調製ＦＦＰ投与の試み
- 竹山 佳織,辻 博之,永峰 知子,中村 恵子,玉井 普,松本 雅則,藤村 吉博,谷 慶彦,柴田 弘俊
- 日本輸血細胞治療学会誌 56(1), 48-51, 2010
- Upshaw-Schulman症候群（USS）は，von Willebrand因子切断酵素（ADAMTS13）の遺伝子変異により，ADAMTS13活性が著減して発症する先天性血栓性血小板減少性紫斑病である．典型的な症例では新生児期から重症黄疸を呈し，しばしば交換輸血を要する．また，血小板減少症や細血管障害性溶血性貧血などを繰り返し，新鮮凍結血漿（FFP）投与が必要となる．多くの症例では，ADAMT …
- NAID 130004542604
- 第45回2008年度 ベルツ賞受賞論文 2等賞 動脈血栓症の制圧--VWF-GPIb軸依存性血小板血栓形成を調節するADAMTS13の基礎・臨床病態解析
- 藤村 吉博,松本 雅則,上村 正人 [他]
- 最新医学 64(2), 290-321[含 英語文要旨], 2009-02
- … In particular, analyzing the phenotype-genotype relationships of congenital deficiency of ADAMTS13, termed Upshaw-Schulman syndrome (USS), due to ADAMTS13 gene mutations, can provide in vivo prototypic model of platelet thrombus formation under high shear stress. … Further, through analyzing the natural history and ADAMTS13 gene mutations in these patients, we found that severe neonatal jaundice that requires exchange blood transfusions, a classic hallmark of USS, was seen in only 16 (43%) of 37 patients. …
- NAID 40016466515
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- congenital hemolytic jaundice n. See hereditary spherocytosis. jaundice (jändis), n a condition characterized by an abnormal accumulation of bilirubin (red bile pigment) in the blood and manifested by a yellowish discoloration of the ...
★リンクテーブル★
[★]
- 英
- hereditary spherocytosis, HS
- 同
- 家族性溶血性黄疸 familial hemolytic jaundice、先天性溶血性黄疸 congenital hemolytic jaundice、ミンコフスキー・ショファー症候群 ミンコフスキー-ショファール症候群 Minkowski-Chauffard syndrome
- 関
- 溶血性貧血
概念
病因
- 赤血球の細胞の裏打ち蛋白(アンキリンなど)の障害により生じる。
疫学
遺伝
病態
- 臨床的なスペクトラムは広く、幼児に発症することもあれば成人後、あるいは妊娠を契機に診断されることがある。
- 血管外溶血をきたす → 脾腫
身体所見
検査
- 網赤血球：増加 → 造血の亢進
- 正球性高色素性貧血：MCHC高値
- 末梢血：球状赤血球の出現
[show details]
[show details]
- AST：上昇 → 溶血による
- LDH：上昇 → 溶血による
- 浸透圧に対する脆弱性 (the presence of osmotic fragility became the main diagnostic test for HS.)
- → (1)赤血球膜の物理的な脆弱性、((2)構造的に水分を取り込む余地がない(出典は？？？))
症状
合併症
参考
- 1. [charged] Hereditary spherocytosis: Mechanism of hemolysis and pathogenesis - uptodate [1]
- 2. [uptodate] Hereditary spherocytosis: Clinical features; diagnosis; and treatment - uptodate [2]
国試
-hereditary spherocytosis
[★]
- 英
- congenital hemolytic icterus, congenital hemolytic jaundice
- 同
- 家族性溶血性黄疸 familial hemolytic jaundice
- 関
- 遺伝性球状赤血球症、溶血性貧血
[★]
- 関
- congenital、congenitally
[★]
- 関
- haemolysis、haemolytic、hemolysis、hemolyze
[★]
溶血性黄疸
- 関
- acquired hemolytic anemia、hemolytic anemia、microangiopathic anemia
[★]
[★]
- 関
- icteric