지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제22권 제4호
- 발행연도
- 2019.1
- 수록면
- 392 - 399 (8page)
이용수
초록· 키워드
오류제보하기
Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and selfmutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
Swanson AG / 1963 / Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings / Arch Neurol 8:299~306
Sarasola E / 2011 / A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis / BMC Med Genet 12:86
Azadvari M / 2016 / Hereditary sensory and autonomic neuropathy type IV in 9 year old boy : a case report / Iran J Child Neurol 10:83~85
Jeong Kee Seo / 2012 / Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis / Pediatric Gastroenterology, Hepatology & Nutrition 15(4):197~209
Socha P / 2018 / Wilson's disease in children : a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition / J Pediatr Gastroenterol Nutr 66:334~344
Sarasola E / 2011 / A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis / BMC Med Genet 12:86
Azadvari M / 2016 / Hereditary sensory and autonomic neuropathy type IV in 9 year old boy : a case report / Iran J Child Neurol 10:83~85
Jeong Kee Seo / 2012 / Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis / Pediatric Gastroenterology, Hepatology & Nutrition 15(4):197~209
Socha P / 2018 / Wilson's disease in children : a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition / J Pediatr Gastroenterol Nutr 66:334~344
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