TY - JOUR
T1 - Acute intermittent porphyria as a cause of respiratory failure
T2 - Case report
AU - Asselbergs, Folkert W.
AU - Hovinga, Ton K. Kremer
AU - Bouwsma, Cees
AU - van Ingen, Jan
PY - 2009
Y1 - 2009
N2 - 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. © 2009 American Association of Critical-Care Nurses.
AB - 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. © 2009 American Association of Critical-Care Nurses.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77954614834&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/19255109
U2 - https://doi.org/10.4037/ajcc2009196
DO - https://doi.org/10.4037/ajcc2009196
M3 - Article
C2 - 19255109
SN - 1062-3264
VL - 18
SP - 178
EP - 180
JO - American journal of critical care
JF - American journal of critical care
IS - 2
ER -