Læknablaðið - 15.06.2010, Blaðsíða 30

FRÆÐIGREINAR
SJÚKRATILFELLI
til þess að auka vitneskju um porfýríur og bæta
greiningu þeirra.
Heimildir
1. Desnick RJ, Kenneth H.A. The Porphyrias. In: Fauci AS,
Kasper DL, Longo DL, et al, editors. Harrison's Principles of
Intemal Medicine. 17th ed. McGraw, 2008: 352-76.
2. Bylesjö I, Wikberg A, Andersson C. Clinical aspects of acute
intermittent porphyria in northern Sweden: a population-
based study. Scand J Clin Lab Invest 2009; 69: 612-8.
3. Badminton MN, Elder GH. Molecular mechanisms of
dominant expression in porphyria. J Inherit Metab Dis 2005;
28: 277-86.
4. Shiraki K, Takase K, Tameda Y, Kosaka Y. Acute pancreatitis
associated with acute intermittent porphyria. Nippon Rinsho
1995; 53:1479-83.
5. Aarsand AK, Petersen PH, Sandberg S. Estimation and
application of biological variation of urinary delta-
aminolevulinic acid and porphobilinogen in healthy
individuals and in patients with acute intermittent
porphyria. Clin Chem 2006; 52: 650-6.
6. Thadani H, Deacon A, Peters T. Diagnosis and management
of porphyria. BMJ 2000; 320:1647-51.
7. Mustajoki P, Nordmann Y. Early administration of heme
arginate for acute porphyric attacks. Arch Intem Med 1993;
153: 2004-8.
8. www.fass.se Apríl 2009.
9. Anderson KE, Bloomer JR, Bonkovsky HL, et al.
Recommendations for the diagnosis and treatment of the
acute porphyrias. Ann Intern Med 2005; 142: 439-50.
10. Cherem JH, Malagon J, Nellen H. Cimetidine and acute
intermittent porphyria. Ann Intern Med 2005; 143: 694-5.
11. Dover SB, Moore MR, Fitzsimmons EJ, Graham A, McColl
KE. Tin protoporphyrin prolongs the biochemical remission
produced by heme arginate in acute hepatic porphyria.
Gastroenterology 1993; 105: 500-6.
12. Soonawalla ZF, Orug T, Badminton MN, et al. Liver
transplantation as a cure for acute intermittent porphyria.
Lancet 2004; 363:705-6.
13. Johansson A, Moller C, Harper P. Correction of the
biochemical defect in porphobilinogen deaminase deficient
cells by non-viral gene delivery. Mol Cell Biochem 2003; 250:
65-71.
14. Tatum WOt, Zachariah SB. Gabapentin treatment of seizures
in acute intermittent porphyria. Neurology 1995; 45:1216-7.
15. Menawat AS, Panwar RB, Kochar DK, Joshi CK. Propranolol
in acute intermittent porphyria. Postgrad Med J 1979; 55:546-
7.
16. Andersson C, Lithner F. Hypertension and renal disease in
patients with acute intermittent porphyria. J Intem Med
1994; 236:169-75.
17. Andersson C, Bjersing L, Lithner F. The epidemiology of
hepatocellular carcinoma in patients with acute intermittent
porphyria. J Intem Med 1996; 240:195-201.
18. Jeans JB, Savik K, Gross CR, et al. Mortality in patients with
acute intermittent porphyria requiring hospitalization: a
United States case series. Am J Med Genet 1996; 65: 269-73.
19. von und zu Fraunberg M, Pischik E, Udd L, Kauppinen
R. Clinical and biochemical characteristics and genotype-
phenotype correlation in 143 Finnish and Russian patients
with acute intermittent porphyria. Medicine (Baltimore)
2005; 84: 35-47.
20. Thunell S, Floderus Y, Henrichson A, Harper P. Porphyria in
Sweden. Physiol Res 2006; 55: S109-18.
21. McColl KE, Thompson GG, Moore MR, Goldberg A. Acute
ethanol ingestion and haem biosynthesis in healthy subjects.
Eur J Clin Invest 1980; 10:107-12.
22. Anderson KE, Collins S. Open-label study of hemin for acute
porphyria: clinical practice implications. Am J Med 2006; 119:
801; el9-24.
23. Anderson KE, Spitz IM, Bardin CW, Kappas A. A
gonadotropin releasing hormone analogue prevents cyclical
attacks of porphyria. Arch Intern Med 1990; 150:1469-74.
24. Bloomer JR, McGuire BM. Intermittent unexplained
abdominal pain: is it porphyria? Clin Gastroenterol Hepatol
2007; 5:1255-8.
>-
CC
<
5
2
3
co
i
(n
_i
o
z
LLI
Acute abdominal pain caused by acute intermittent porphyria
- case report and review of the literature
We describe a case of acute intermittent porphyria in a
woman who presented repeatedly with abdominal pain.
Porphyrias are caused by decreased enzyme activity in
the heme biosynthetic pathway leading to overproduction
of heme precursors if demand increases. This can cause
symptoms such as abdominal pain, nausea and vomiting,
constipation, tachycardia and hypertension. Treatment
includes removal of causative factors, administration of
carbohydrates or hemin to reduce the production of heme
precursors as well as symptomatic treatment.
Birgisdóttir BT, Arnardottir S, Asgeirsson H, Jonsson JJ, Vidarsson B.
Acute abdominal pain caused by acute intermittent porphyria - case report and review of the
literature. Icel Med J 2010; 96; 415-20.
Key words: acuíe intermittent porphyria, pathophysioiogy, epidemiology, treatment.
Correspondence; Brynjar Viðarsson, brynvida@landspitali.is
418 LÆKNAblaðið 2010/96
Barst: 3. desember 2009, - samþykkt til birtingar: 5. maí 2010
Hagsmunatengsl: Engin