Acute intermittent porphyria as a cause of respiratory failure: case report. American journal of critical care : an official publication, American Association of Critical-Care Nurses [Am J Crit Care] Journal article | | Title | Acute intermittent porphyria as a cause of respiratory failure: case report. | | Author(s) | Asselbergs FW, Kremer Hovinga TK, Bouwsma C, van Ingen J | | Institution | Department of Cardiology, University Medical Center Groningen, and Department of Internal Medicine, Martini Hospital, Groningen, the Netherlands. fwasselbergs@hotmail.com | | Source | Am J Crit Care 2009 Mar; 18(2):180, 178-9. | | MeSH | Chronic Disease
Fatal Outcome
Humans
Kidney Failure, Chronic
Male
Middle Aged
Peripheral Nervous System Diseases
Polycystic Kidney Diseases
Porphyria, Acute Intermittent
Respiratory Insufficiency
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 19255109 |
|
|
| |
Advertise on this site.
| | |
|
