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  1. 050 医学部, 大学院医学系研究科
  2. 0502 紀要・刊行物
  3. 05021 信州医学雑誌
  4. Vol. 55 No. 6

1カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の1例

http://hdl.handle.net/10091/3714
dbcece4f-473c-4f0b-9260-5fc7510da77c
名前 / ファイル ライセンス アクション
Shinshu_Med55-6-04.pdf Shinshu_Med55-6-04.pdf (1.2 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2009-12-04
タイトル
言語 ja
タイトル 1カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の1例
言語
言語 jpn
キーワード
主題Scheme Other
主題 infantile hypophosphatasia
キーワード
主題Scheme Other
主題 hypercalcemia
キーワード
主題Scheme Other
主題 tissue non-specific alkaline phosphatase gene
キーワード
主題Scheme Other
主題 compound heterozygote
キーワード
主題Scheme Other
主題 乳児型低ホスファターゼ症
キーワード
主題Scheme Other
主題 高カルシウム血症
キーワード
主題Scheme Other
主題 組織非特異的アルカリホスファターゼ遺伝子
キーワード
主題Scheme Other
主題 複合ヘテロ接合体
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
その他(別言語等)のタイトル
その他のタイトル A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old
言語 en
著者 小口, 弘子

× 小口, 弘子

WEKO 9607

ja 小口, 弘子

Search repository
日高, 義彦

× 日高, 義彦

WEKO 9608

ja 日高, 義彦

Search repository
塩原, 正明

× 塩原, 正明

WEKO 9609

ja 塩原, 正明

Search repository
小池, 健一

× 小池, 健一

WEKO 9610

ja 小池, 健一

Search repository
出版者
出版者 信州医学会
引用
内容記述タイプ Other
内容記述 信州医学雑誌 55(6): 333-337(2007)
書誌情報 信州医学雑誌

巻 55, 号 6, p. 333-337, 発行日 2007-12-10
抄録
内容記述タイプ Abstract
内容記述 Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenonspecific alkaline phosphatase (TNSALP) activities. A one-month-old boy showed poor weight gain. His body weight and height were 3,202 g (-2.7SD) and 53 cm (-1.4SD), respectively, 7 weeks after birth. Serum calcium level was very high with a value of 17.6 mg/dl. Serum alkaline phosphatase level was 30 IU/l, while bone-type ALP was undetectable. Urine phosphoethanolamine, one of the substrates of ALP, was 3,056.8 nmol/mgCr. Urine Ca/Cr ratio was 1.4. Radiological findings showed osteopenia of cranial bones and irregular ossification of metaphyses of long bones. He was diagnosed with infantile type hypophosphatasia. He was treated with diuretics, a low Ca diet and calcitonin to decrease his serum calcium level. Appropriate body weight gain was not achieved even after the serum Ca level improved. He repeatedly suffered respiratory tract infection and died from pneumonia at 6-months.Analysis of TNSALP gene of the patient revealed compound heterozygous mutations of K207E and T1559del.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Article
ISSN
収録物識別子タイプ PISSN
収録物識別子 0037-3826
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00120815
DOI
関連タイプ isIdenticalTo
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.11441/shinshumedj.55.333
関連名称
関連名称 10.11441/shinshumedj.55.333
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
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