Therapeutic strategies for acute intermittent porphyria
نویسندگان
چکیده
منابع مشابه
Feigning Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning this illness has not been reported in the English language literature to date. Here, we report on a patient who presented to the hospital with...
متن کاملAcute intermittent porphyria after gastroplasty.
A 28-year-old female underwent gastroplasty for obesity in an uneventful procedure. This was followed within five days by persistent abdominal pain associated with weakness that progressed to generalized flaccid quadriparesis. She developed respiratory distress, and required intubation. Cerebrospinal fluid (CSF) revealed a normal cell count and elevated total protein. Her folate and vitamin B12...
متن کاملAcute intermittent porphyria treated by testosterone implant.
The hereditary disorder acute intermittent porphyria is potentially fatal. Many more females present with active disease than males and some have attacks related to their menstrual cycle and pregnancy. We present a female patient who was diagnosed while pregnant at 19 years. She subsequently developed life-threatening attacks pre-menstrually at 24 years; these were associated with weight loss. ...
متن کامل[Acute intermittent porphyria; 4 case reports].
A case of acute intermittent porphyria is presented. This case emphasizes the clinical, biochemical and endocrinological changes, and their possible aetiology is discussed. Treatment, especially the use of intravenous haematin, is also described.
متن کاملAcute intermittent porphyria--diagnostic and treatment traps.
Acute intermittent porphyria (AIP) is a rare metabolic disease defined by mutations coding the deaminaze enzyme of porphobilinogen (PBGD). Porphyrias are somewhat misdiagnosed as a consequence of light symptoms in patients. Acute forms of porphyria can be life-threatening, so a correct diagnosis and an accurate treatment are highly important. The authors presented the case of a 38-years-old pat...
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ژورنال
عنوان ژورنال: Intractable & Rare Diseases Research
سال: 2020
ISSN: 2186-361X,2186-3644
DOI: 10.5582/irdr.2020.03089