title: Acute intermittent porphyria as a cause of respiratory failure: case report.
abstract: A 45-year-old man with end-stage renal disease due to polycystic kidney disease was admitted to the hospital because of recurrent abdominal pain, progressive peripheral motor neuron neuropathy, and respiratory failure. The diagnosis of acute intermittent porphyria was confirmed by an elevated porphyrin concentration in the urine and the presence of an R167Q mutation in the porphobilinogen deaminase gene. Use of hydroxyzine, weight loss, and/or a mild upper respiratory viral infection might have been the provoking factor of the acute intermittent porphyria. Treatment with intravenous hemin (3 mg/kg) and a high-carbohydrate diet (3000 kcal/d) had no clinical effect. Tetraplegia and chronic respiratory insufficiency developed, and the patient needed a pacemaker because of a symptomatic sinus bradycardia due to autonomic dysfunction. The patient died 10 months after the first manifestation of acute intermittent porphyria.
authors.affiliation: Department of Cardiology, University Medical Center Groningen, and Department of Internal Medicine, Martini Hospital, Groningen, the Netherlands. fwasselbergs@hotmail.com
authors.forename: Folkert W
authors.initials: FW
authors.lastname: Asselbergs
authors.forename: Ton K
authors.initials: TK
authors.lastname: Kremer Hovinga
authors.forename: Cees
authors.initials: C
authors.lastname: Bouwsma
authors.forename: Jan
authors.initials: J
authors.lastname: van Ingen
mesh_terms: D002908:Chronic Disease; D017809:Fatal Outcome; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000150:complications; D007690:Polycystic Kidney Diseases / Q000150:complications; D017118:Porphyria, Acute Intermittent / Q000209:etiology* / Q000628:therapy; D012131:Respiratory Insufficiency / Q000209:etiology*