کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3466510 1596554 2014 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias
ترجمه فارسی عنوان
تشخیص چالش برای بیماری های بالقوه کشنده: توصیه هایی برای تشخیص پورفیری حاد
کلمات کلیدی
پورفیری حاد، حمله حاد پرفیوژن، مسمومیت سرب، تشخیص، تشخیص های افتراقی، بیوشیمیایی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
چکیده انگلیسی


• 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.

Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible the more effective treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially in the presence of life-threatening symptoms.In this paper, we provide some recommendations for the diagnostic steps of acute porphyrias by reviewing literature and referring to clinical experience of the board members of the Gruppo Italiano Porfiria (GrIP).

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Internal Medicine - Volume 25, Issue 6, July 2014, Pages 497–505
نویسندگان
, , , , ,