カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	症例報告
言語種別	日本語
査読の有無	査読あり
表題	[Glutathione synthetase deficiency].
掲載誌名	正式名：[Rinshō ketsueki]The Japanese journal of clinical hematology 略　 称：Rinsho Ketsueki ISSNコード：0485-1439(Print)0485-1439(Linking)
巻・号・頁	37(4),329-34頁
著者・共著者	Iyori H, Hirono A, Kobayashi N, Ishitoya N, Akatsuka J, Kanno H, Fujii H, Miwa S
発行年月	1996/04
概要	CASE REPORT:The patient was a boy born in June, 1990. The proband's father had a history of nonspherocytic hemolytic anemia. The patient was anemic at birth (Hb 11.9 g/dl) and had a hemolytic attack on postnatal day 2. His hemolysis became well compensated, and his second hemolytic episode occurred at three years of age. CLINICAL AND LABORATORY FINDINGS: The patient's mental development had so far been normal and he has no neurological symptoms. His only clinical maniCASE REPORT:festation has been compensated hemolytic anemia with a hemoglobin concentration of about 11.0 g/dl and a reticulocyte count of 3-6%. He was positive on the Heinz body formation test, and target cells were seen on his peripheral blood smear. The osmotic fragility test yielded slightly increased value. Decreased reduced glutathione (GSH) was observed (4.4 mg/dlRBC) (normal range: 63.9 +/- 9.6), and he also had decreased glutathione synthetase (GS) activity of 0.03 U/gHb (0.38 +/- 0.08 U/gHb). A diagnosis of GS deficiency was made. Decreased glutathione S-transferase (GST) activity was also found (0.57 U/gHb) (normal range: 6.65 +/- 1.20).DISCUSSION:GS deficiency has been reported in about 30 families all over the world. This patient was the first Japanese patient with red cell GS deficiency.
文献番号	8847804