Department of Nephrology, Erciyes University Medical School, Kayseri, Turkey.
Int Urol Nephrol. 2010 Dec;42(4):1103-5. doi: 10.1007/s11255-010-9709-8. Epub 2010 Jan 29.
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.
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。