| Item type |
学術雑誌論文 / Journal Article(1) |
| タイトル |
|
|
タイトル |
Genetic Counselling for a Pregnant Woman from Female Fabry Disease Families: Case Report and Newborn Screening Update |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Fabry disease |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Genetic counselling |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Newborn screening |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Female inheritance |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
GLA gene |
| 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 |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Naruse, Katsuhiko
Muramatsu, Miyuki
Soeda, Wakana
Tada, Kazumi
Shibata, Eiji
Tanaka, Yuko
Kogai, Takahiko
Imataka, George
Suzumura, Hiroshi
|
| 書誌情報 |
en : Dokkyo Medical Journal
巻 4,
号 5,
p. 413-416,
発行日 2025-10-25
|
| 記事種別 |
|
|
値 |
Case Report |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Fabry disease is caused by a deficiency in metabolic enzymes that leads to kidney failure, heart disease, and stroke with age. It is generally considered to be an X-linked recessive inheritance; however, a high incidence of female cases has been found in some families, and genetic counseling (GC) remains challenging.
A 39-year-old pregnant woman at 32 weeks of gestation was referred for GC. Her mother died of Fabry disease at the age of 66, her elder brother died at the age of 36, and she herself was confirmed to have a heterozygous mutation in the GLA gene. In GC, the probability of inheritance in her fetus, about the disease that is commonly likely to occur in boys, but in girls, there are large individual differences in onset or disease status, and enzyme replacement therapy, which can delay the progression of the disease, were explained. Her understanding of the disease was quite good. It has also been explained that expanded blood spot screening after birth is recommended for newborns (also for girls). Although the GC gave her a positive view of the disease, there was fear that the outcome would persist if the disease was severe.
Later, she had a successful spontaneous birth of a female baby at term. Screening of the newborn showed no problems with enzyme expression, and disease was not considered to be present at this stage. Female Fabry disease is rare, but careful GC is strongly needed if there is female onset in the family tree, especially in relation to pregnancy. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Dokkyo Medical Society |
| ISSN |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2436-522X |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12941861 |
| DOI |
|
|
関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.51040/dkmj.2025-020 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
DKMJ-4-5-9.pdf (232 KB)
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