| Item type |
紀要論文 / Departmental Bulletin Paper(1) |
| 公開日 |
2007-06-30 |
| タイトル |
|
|
タイトル |
日本の新生児マススクリーニングで初めて発見されたプロピオン酸血症患児の療育に関する検討 |
| タイトル |
|
|
タイトル |
The first case with propionic acidemia found in newborn screening by tandem mass spectrometry in Japan : clinical management during infancy |
| 言語 |
|
|
言語 |
jpn |
| キーワード |
|
|
主題 |
mass screening |
| キーワード |
|
|
主題 |
propionic acidemia |
| キーワード |
|
|
主題 |
diet therapy |
| キーワード |
|
|
主題 |
family care |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 著者 |
重松, 陽介
笠川, 洋子
家森, 由香
冨田, 香
北山, 富士子
畑, 郁江
眞弓, 光文
田中, 幸枝
SHIGEMATSU, Yosuke
SASAKAWA, Youko
IEMORI, Yuka
TOMITA, Kaori
KITAYAMA, Fujiko
HATA, Ikue
MAYUMI, Mitsufumi
TANAKA, Yukie
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
The purpose of this study was to clarify the factors which influence the efficacy of treatment on a patient with propionic acidemia who was found in our pilot study of newborn screening by tandem mass spectrometry. The patient was classified into a milder form of this disorder based on the enzymological analysis. She was symptom-free until diagnosis at 26 days, and had no apparent developmental delay at 24 months of age. The patient was treated with carnitine and protein-restricted diet using a special formula for this disorder, which was supplemented with an strawberry flavor to improve the odor and taste and with tetrasaccharide to increase calories. The mother was trained to calculate the patient's intake of calories and protein, and the assessment of diet therapy was done using her daily records. When the patient could not have sufficient calories because of such diseases as gastroenteritis and other febrile illnesses, intravenous glucose infusions were done irrespective of the presence of ketosis. Nursing staff played an important role in the outpatient clinic in preventing infectious diseases and in judging the patient condition. The mother was encouraged to continue diet therapy in our clinic where the favorable course of patient's development was ascertained using a developmental scale. Our experiences indicated that early assessment of the mother's character and repeated confirmation of family members' understanding about the disease by nursing staff were important for successful treatment of the patient. |
| 書誌情報 |
福井医科大学研究雑誌
巻 1,
号 2,
p. 275-282,
発行日 2000-06-30
|
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
13453890 |
| 書誌レコードID |
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|
|
識別子タイプ |
NCID |
|
|
関連識別子 |
TD00002874 |
KJ00000048710.pdf (1.9 MB)
