A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias
详细信息 查看全文
- 作者：Paolo Venturaa ; paoloven@unimore.it" class="auth_mail ; Maria Domenica Cappellinib ; Gianfranco Biolcatic ; Claudio Carmine Guidad ; Emilio Rocchia ; ; Gruppo Italiano Porfiria (GrIP) 1
- 关键词：Acute porphyrias ; Acute porphyric attack ; Lead intoxication ; Diagnosis ; Differential diagnosis ; Biochemical
- 刊名：European Journal of Internal Medicine
- 出版年：July 2014
- 年：2014
- 卷：25
- 期：6
- 页码：497-505
- 全文大小：716 K
文摘
- •
Acute porphyrias are metabolic rare diseases.
- •
Their clinical exacerbation (acute porphyric attack, APA) may be difficult to diagnose.
- •
If misdiagnosed or inappropriately treated, APA can be fatal.
- •
For diagnosis of APA, the knowledge and the use of appropriate diagnostic tools are mandatory.
- •
We review the different steps for diagnosing APA and different kinds of acute porphyrias.