Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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A Case of Lipoprotein Lipase Deficiency in an Infant with Recurrent Pancreatitis

영아기에 반복성 췌장염을 보인 지질단백 지질분해 효소 결핍 1예

  • Park, Hae-Jin (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Choi, Byeong-Sam (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Hye-Ran (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chang, Ju-Young (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae-Sung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Shin, Choong-Ho (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Sei-Won (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seo, Jeong-Kee (Department of Pediatrics, Seoul National University College of Medicine)
  • 박혜진 (서울대학교 의과대학 소아과학교실) ;
  • 최병삼 (서울대학교 의과대학 소아과학교실) ;
  • 양혜란 (서울대학교 의과대학 소아과학교실) ;
  • 장주영 (서울대학교 의과대학 소아과학교실) ;
  • 고재성 (서울대학교 의과대학 소아과학교실) ;
  • 신충호 (서울대학교 의과대학 소아과학교실) ;
  • 양세원 (서울대학교 의과대학 소아과학교실) ;
  • 서정기 (서울대학교 의과대학 소아과학교실)
  • Received : 2009.01.31
  • Accepted : 2009.03.10
  • Published : 2009.03.30
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Abstract

Familial chylomicronemia syndrome is a rare disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Causes of the syndrome include lipoprotein lipase (LPL) deficiency, apolipoprotein C-II deficiency, or the presence of inhibitors to LPL. We managed a 3-month-old girl who had recurrent acute pancreatitis caused by chylomicronemia. We report the first case of familial chylomicronemia in Korea caused by LPL deficiency in an infant with recurrent acute pancreatitis.

반복적인 복통, 췌장염이 있을 때, 혈액검사에서 중성지방 등의 지질분석을 통해 가족성 킬로미크론혈증의 감별이 필요하며 필요시 LPL 활성도, apo C-II 검사를 실시해야한다. 가족성 킬로미크론혈증으로 진단되었을 경우 식이요법과 약물요법으로 혈중 중성지방을 낮추어 반복적인 췌장염의 발생을 줄이도록 하며, 소아의 경우 식이요법이 어려우므로 보호자와 환자에 대한 교육 역시 중요하다.

Keywords

References

  1. Mohandas MK, Jemila K, Ajith Krishnan AS, George TT. Familial chylomicronemia syndrome. Indian J Pediatr 2005;72:181.
  2. Feoli-Fonseca Jc, Levy E, Godard M, Lamber M. Familial lipoprotein lipase deficiency in infancy: clinical biochemical and molecular study. J Pediatr 1998;133:417-23. https://doi.org/10.1016/S0022-3476(98)70280-X
  3. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am 1998;27:551-67. https://doi.org/10.1016/S0889-8529(05)70025-6
  4. Truninger K, Schmid PA, Hoffmann MM, Bertschinger P, Ammann RW. Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome. Pancreas 2006;32:215-9. https://doi.org/10.1097/01.mpa.0000202942.93578.dd
  5. Leaf DA. Chylomicronemia and the chylomicronemia syndrome: a practical approach to management. Am J Med 2008;121:10-2. https://doi.org/10.1016/j.amjmed.2007.10.004
  6. Sugandhan S, Khandpur S, Sharma VK. Familial chylomicronemia syndrome. Pediatr Dermatol 2007;24:323-5. https://doi.org/10.1111/j.1525-1470.2007.00415.x
  7. Tonstad S, Thompson GR. Management of hyperlipidemia in the pediatric population. Curr Treat Options Cardiovasc Med 2004;6:431-7. https://doi.org/10.1007/s11936-004-0027-2
  8. Pschierer V, Richter WO, Schwandt P. Primary chylomicronemia in patients with severe familial hypertriglylceridemia responds to long-term treatment with (n-3) fatty acid. J Nutr 1995;125:1490-4.
  9. Lennertz A, Parhofer KG, Samtleben W, Bosch T. Therapeutic plasma exchange in patients with chylomicronemia syndrome complicated by acute pancreatitis. Ther Apher 1999;3:227-33. https://doi.org/10.1046/j.1526-0968.1999.00158.x
  10. Baggio G, Manzato E, Gabelli C, Fellin R, Martini S, Enzi GB, et al. Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. J Clin Invest 1986;77:520-7. https://doi.org/10.1172/JCI112332
  11. Ross CJ, Twisk J, Meulenberg JM, Liu G, van den Oever K, Moraal E, et al. Long term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL (S447X) beneficial mutation. Hum Gene Ther 2005;15:906-19.
  12. Ross J, Twisk J, Bakker AC, Miao F, Verbart D, Rip J, et al. Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation. Hum Gene Ther 2006;17:487-99. https://doi.org/10.1089/hum.2006.17.487
  13. Rip J, Nierman MC, Sierts JA, Petersen W, Den Over KV, Raalte DV. Gene therapy for lipoprotein lipase deficiency: working toward clinical application. Hum Gene Ther 2005;16:1276-86. https://doi.org/10.1089/hum.2005.16.1276