| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2008-03-28 |
| タイトル |
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タイトル |
Familial hyperinsulinemia due to a structurally abnormal insulin: Definition of an emerging new clinical syndrome. |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ |
journal article |
| 著者 |
羽田, 勝計
Polonsky, KS
Bergenstal, RM
Jaspan, JB
Shoelson, SE
Blix, PM
Chan, SJ
Kwok, SCM
Wishner, WB
Zeider, A
Olefsky, JM
Freidenberg, G
Tager, HS
Steiner, DF
Rubenstein, AH
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| 著者 ローマ字 |
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Haneda, Masakazu |
| 書誌情報 |
New England Journal of Medicine
巻 310,
号 20,
p. 1288-1294,
発行日 1984-01-01
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| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
0028-4793 |
| リンクURL |
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内容記述タイプ |
Other |
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内容記述 |
http://www.ncbi.nlm.nih.gov/pubmed?term=Familial%20hyperinsulinemia%20due%20to%20a%20structurally%20abnormal%20insulin%3A%20Definition%20of%20an%20emerging%20new%20clinical%20syndrome. | http://www.ncbi.nlm.nih.gov/pubmed?term=Familial%20hyperinsulinemia%20due%20to%20a%20structurally%20abnormal%20insulin%3A%20Definition%20of%20an%20emerging%20new%20clinical%20syndrome. |
| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
We have identified a patient with mild diabetes, marked fasting hyperinsulinemia (89 to 130 microU of insulin per milliliter), and a reduced fasting C-peptide: insulin molar ratio of 1.11 to 1.50 (normal, greater than 4). The patient responded normally to exogenous insulin. However, her endogenous immunoreactive insulin showed reduced biologic activity during a glucose-clamp study with hyperglycemia and a reduced ability to bind to the insulin receptor and stimulate glucose transport in vitro. Family studies showed that five additional relatives in three generations had variable degrees of glucose intolerance, marked hyperinsulinemia, and a reduced peripheral C-peptide:insulin molar ratio. Restriction-endonuclease cleavage of DNA isolated from circulating leukocytes in the patient and in family members with hyperinsulinemia revealed loss of the MboII recognition site in one allele of the insulin gene--consistent with a point mutation at position 24 or 25 in the insulin B chain. Other studies using high-pressure liquid chromatography and detailed gene analysis have identified the defect as a serine for phenylalanine substitution at position 24 of the insulin B chain. The secretion of a structurally abnormal insulin should be considered in patients with hyperinsulinemia who respond normally to exogenous insulin and have a reduced C-peptide:insulin molar ratio. Glucose tolerance may range from relatively normal to overtly diabetic. |
| 注記 |
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内容記述タイプ |
Other |
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注記 |
Massachusetts Medical Society, Haneda, M. ; Polonsky, KS. ; Bergenstal, RM. ; Jaspan, JB ; Shoelson, SE, ; Blix, PM ; Chan, SJ ; Kwok, SCM ; Wishner, WB ; Zeidler; A. ; Olefsky, JM ; Freidenberg, G,: Tager, HS. ; Steiner, DF : Rubenstein, AH, New England Journal of Medicine, 310(20), 1984, 1288-1294.
\npublisher |
| 資源タイプ |
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内容記述タイプ |
Other |
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資源タイプ |
text |
| フォーマット |
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内容記述タイプ |
Other |
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内容記述 |
application/pdf |
| ID(XooNIps) |
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6371526 |
| 閲覧数(XooNIps) |
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| ダウンロード数(XooNIps) |
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2063 |
903.pdf (3.9 MB)
