Pediatric Gastroenterology, Hepatology & Nutrition

  • 제14권1호
  • /
  • Pages.81-85
  • /
  • 2011
  • /
  • 2234-8646(pISSN)
  • /
  • 2234-8840(eISSN)
대한소아소화기영양학회 (The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition)
권호 표지
DOI QR코드

DOI QR Code

반복되는 복통과 고혈압을 동반한 급성 간헐성 포르피린증 1예

Acute Intermittent Porphyria Presented with Recurrent Abdominal Pain and Hypertension

  • 박미란 (서울대학교 의과대학 소아과학교실) ;
  • 서정기 (서울대학교 의과대학 소아과학교실) ;
  • 고재성 (서울대학교 의과대학 소아과학교실) ;
  • 장주영 (서울대학교 의과대학 소아과학교실) ;
  • 양혜란 (서울대학교 의과대학 소아과학교실)
  • Park, Mi-Ran (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seo, Jeong-Kee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae-Sung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chang, Ju-Young (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Hye-Ran (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2010.07.30
  • 심사 : 2010.08.26
  • 발행 : 2011.03.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

16세 여아에서 복통, 구토, 고혈압, 경련 및 고지혈증을 보였던 급성 간헐성 포르피린증 1예를 경험하였기에 보고하는 바이다. 소아에서 원인을 알 수 없는 복통에 고혈압, 경련 등 특징적 포르피리아 증상이 동반된 경우에 반드시 급성 간헐성 포르피린증을 고려해야 한다.

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.

키워드

참고문헌

  1. Jun DW, Choi CS, Choi HS, Jung YC, Sohn JH, Han DS, et al. A case of acute intermittent porphyria showing respiratory failure and neurologic disorders. Korean J Gastroenterol 2000;36:413-8.
  2. Kim SH, Chio KY, Park BR. Case reporte: a case report of acute intermittent porphyria. Korean J Med 1964;7: 377-80.
  3. Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet 1997;349:1613-7. https://doi.org/10.1016/S0140-6736(96)09070-8
  4. Bravenboer B, Erkelens DW. Acute hypertension mimicking phaeochromocytoma as main presenting feature of acute intermittent porphyria. Lancet 1989;2:928.
  5. Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev 1996;10:53-8. https://doi.org/10.1016/S0268-960X(96)90020-X
  6. Daniela VA. Acute intermittent porphyria: case report and review of literature. Rev Bras Ter Intensiva 2008;20: 429-34. https://doi.org/10.1590/S0103-507X2008000400017
  7. Kaplan PW, Lewis DV. Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature. J Child Neurol 1986; 1:38-45. https://doi.org/10.1177/088307388600100106
  8. Herrick AL, McColl KE. Acute intermittent porphyria. Best Pract Res Clin Gastroenterol 2005;19:235-49. https://doi.org/10.1016/j.bpg.2004.10.006
  9. Kauppinen R. Porphyrias. Lancet 2005;365:241-52. https://doi.org/10.1016/S0140-6736(05)70154-9
  10. Andersson C, Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med 1994;236:169-75. https://doi.org/10.1111/j.1365-2796.1994.tb01279.x
  11. Singh V, Sud K, Kohli HS, Gupta KL, Sakhuja V. Acute intermittent porphyria: an unusual cause of malignant hypertension. J Assoc Physicians India 2003;51:225-6.
  12. Utz N, Kinkel B, Hedde JP, Bewermeyer H. MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome. Neuroradiology 2001;43:1059-62. https://doi.org/10.1007/s002340100616
  13. Maramattom BV, Zaldivar RA, Glynn SM, Eggers SD, Wijdicks EF. Acute intermittent porphyria presenting as a diffuse encephalopathy. Ann Neurol 2005;57:581-4. https://doi.org/10.1002/ana.20432
  14. Taddeini L, Frantz I Jr, Sanghvi A. Acceleration of hepatic sterol synthesis after a single dose of the porphyrogenic chemical allylisopropylacetamide. J Lipid Res 1974;15:84-8.
  15. Whitelaw AG. Acute intermittent porphyria, hypercholesterolaemia, and renal impairment. Arch Dis Child 1974;49:406. https://doi.org/10.1136/adc.49.5.406
  16. Fernandez-Miranda C, De La Calle M, Larumbe S, Gomez-Izquierdo T, Porres A, Gomez-Gerique J, et al. Lipoprotein abnormalities in patients with asymptomatic acute porphyria. Clin Chim Acta 2000;294:37-43. https://doi.org/10.1016/S0009-8981(99)00257-0
  17. Schoenfeld N, Mamet R, Lurie Y, Green P, Bomstein Y, Atsmon A. The porphyrinogenic effect of simvastatin in experimental systems. Biomed Pharmacother 1989;43: 135-9. https://doi.org/10.1016/0753-3322(89)90142-X

피인용 문헌

  1. Clinical Approach to Functional Gastrointestinal Disorders in Children: Revolve Around on Cyclic Vomiting Syndrome and Aerophagia vol.14, pp.suppl1, 2011, https://doi.org/10.5223/kjpgn.2011.14.suppl1.s9