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色素性视网膜炎与多囊肾病有关吗?

Does retinitis pigmentosa relate with polycystic kidney disease?

机构信息

Department of Nephrology, Erciyes University Medical School, Kayseri, Turkey.

出版信息

Int Urol Nephrol. 2010 Dec;42(4):1103-5. doi: 10.1007/s11255-010-9709-8. Epub 2010 Jan 29.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A 21-year-old woman presented with temporary visual loss and gross hematuria. Fundoscopy showed retinitis pigmentosa, which was confirmed by electroretinogram. Her serum creatinine concentration was 1.6 mg/dl, and her renal ultrasonography revealed bilateral polycystic kidneys; she was unaware of having this condition. In this patient, there was probably an inherited ciliary defect, which may explain the association of ADPKD and retinitis pigmentosa.

摘要

常染色体显性多囊肾病(ADPKD)是最常见的遗传疾病之一。一名 21 岁女性因一过性视力丧失和肉眼血尿就诊。眼底检查显示视网膜色素变性,经视网膜电图证实。她的血清肌酐浓度为 1.6mg/dl,肾脏超声显示双侧多囊肾;但她不知道自己有这种情况。在这位患者中,可能存在遗传性纤毛缺陷,这可以解释 ADPKD 和视网膜色素变性之间的关联。

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