Acute intermittent porphyria in identical twins.
نویسندگان
چکیده
منابع مشابه
Acute intermittent porphyria in identical twins.
Patient 1 A 19-year-old female was initially admitted to the surgical unit of the Royal Alexandra Infirmary on 30 January, 1966. Her complaint was of 3 days' abdominal pain, vomiting and constipation. The constipation had been present for several days prior to the other symptoms. The first clinical impression was of simple constipation and she was treated with purgatives; pethidine was given fo...
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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...
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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...
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Twenty cases of acute intermittent porphyria were studied during the acute phase. Cardiovascular manifestations were noted in all the cases, with tachycardia in 20 and with hypertension in 17. Propranolol in doses ranging from 20-200 mg was given to all the cases and produced adequate control of tachycardia and hypertension. At follow-up, smaller doses of propranolol were found to maintain the ...
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Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreig...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1970
ISSN: 0032-5473
DOI: 10.1136/pgmj.46.542.717