罕见的尿黑酸症一例
摘要
尿黑酸症（Alcaptonuria）是一种罕见的酪氨酸代谢性常染色体隐性遗传病。患者尿液暴露于空气中逐渐变黑,Scribo-nius于1584年首次描述这一现象[1],1859年Boedekerming命名为尿黑酸症[2]。据报道,本病发生率仅为1∶250 000[3],国内文献中报道极少。通过近期在我院住院的1例尿黑酸症患者,
出处
《中国全科医学》
CAS
CSCD
北大核心
2012年第2期223-224,共2页
Chinese General Practice
参考文献12
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1Gaines JJ.The pathology of alkaptonuric ochronosis[J].Hum Pathol,1989,20(1):40-46.
-
2Gutzmer R,Herbst RA,Kiehl P,et al.Alkaptonuric ochronosis:report of two affected brothers[J].J Am Acad Dermatol,1997,37(2):305-307.
-
3Keller JM,Macaulay W,Nercessian OA,et al.New developments in ochronosis:review of the literature[J].Rheumatol Int,2005,25(2):81-85.
-
4Emel E,Karagz F,Aydin IH,et al.Alkaptonuria with lumbar disc herniation:a report of two cases[J].Spine,2000,25(14):2141-2144.
-
5徐公富.现代风湿病学[M].北京:人民军医出版社,1995.406.
-
6Yancovitz M,Anolik R,Pomeranz MK.Alkaptonuria[J].Dermatol Online J,2010,16(11):6.
-
7Lichtenstein L,Kaplan L.Hereditary ochronosis;pathologic changes observed in two necropsied cases[J].Am J Pathol,1954,30(1):99-125.
-
8Wyre HW.Alkaptonuria with extensive ochronosis[J].Arch Dermatol,1979,115(4):461-463.
-
9Concistrè G,Fiorani B,Ranocchi F,et al.Black aorta in a patient with alkaptonuria (ochronosis)[J].J Cardiovasc Med (Hagerstown),2011,12(6):444-445.
-
10Raaijmaakers M,Steenbrugge F,DierickxC.Ochronosis arthroscopy of a black knee:a case report and review of the literature[J].Knee Surg Sports Traumatol Arthrosc,2008,16(2):182-184.
共引文献1
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1王莹,刘俊茹,高峰,王冬.褐黄病1例[J].临床荟萃,2007,22(19):1377-1377.
