Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Pamidronate therapy for a Patient with Methylmalonic acidemia

메틸말론산혈증 환자에서 파미드로네이트 치료 1례

  • Cho, Sujin (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Yoon-Myung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 조수진 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 서고훈 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 김윤명 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 김구환 (울산대학교 의과대학 서울아산병원 의학유전학센터) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년과) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년과)
  • Published : 2018.04.30
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Abstract

Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.

메틸말론산혈증은 선천성 유기산대사질환 중 하나로 증상의 발현시기 및 임상 증상이 매우 다양하며, 장기간의 합병증으로 세뇨관 간질 신염과 만성 신기능 저하, 췌장염, 기저핵 손상, 지능저하가 발생 할 수 있다. 연구자들은 이러한 메틸말론산혈증의 세뇨관 간질신염을 동반한 활동저하 환자에서 파미드로네이트 치료를 통해 고칼슘혈증과 골다공증의 호전을 경험하였기에 보고하는 바이다.

Keywords

References

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