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
- 발행연도
- 2016.1
- 수록면
- 1,438 - 1,442 (5page)
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초록· 키워드
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von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL. He was diagnosed with VHL but without VHL-related manifestation at the time of diagnosis. During childhood, the patient was hospitalized several times for diffuse muscular pain, muscle weakness, and dark urine. These recurrent attacks of rhabdomyolysis were never accompanied by ARF. The patient was found to be homozygous for the mutation p.S113L of the CPT2 gene. To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations.
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등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Gossage L / 2015 / VHL, the story of a tumour suppressor gene / Nat Rev Cancer 15:55~64
Joshi PR / 2014 / Carnitine palmitoyltransferase II(CPT II)deficiency : genotype-phenotype analysis of 50patients / J Neurol Sci 338:107~111
Fanin M / 2012 / Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency / Clin Genet 82:232~239
Chen F / 1995 / Germline mutations in the von Hippel-Lindau disease tumor suppressor gene : correlations with phenotype / Hum Mutat 5:66~75
Castellano M / 2006 / Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients / Ann N Y Acad Sci 1073:156~165
Joshi PR / 2014 / Carnitine palmitoyltransferase II(CPT II)deficiency : genotype-phenotype analysis of 50patients / J Neurol Sci 338:107~111
Fanin M / 2012 / Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency / Clin Genet 82:232~239
Chen F / 1995 / Germline mutations in the von Hippel-Lindau disease tumor suppressor gene : correlations with phenotype / Hum Mutat 5:66~75
Castellano M / 2006 / Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients / Ann N Y Acad Sci 1073:156~165
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