首页> 外文期刊>The Internet Journal of Academic Physician Assistants >Autosomal Dominant Polycystic Kidney Disease: Etiology, Diagnosis, Renal And Extrarenal Complications
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Autosomal Dominant Polycystic Kidney Disease: Etiology, Diagnosis, Renal And Extrarenal Complications

机译:常染色体显性多囊肾病的病因,诊断,肾脏和肾外并发症

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Autosomal dominant polycystic kidney disease (ADPKD) is the third most common systemic hereditary disease. Only hypercholesterolemia and dominant otosclerosis affect a larger population of patients. Its prevalence is estimated to be between 1 in 400 and 1 in 1000. ADPKD accounts for 10% to 15% of end-stage renal disease cases requiring dialysis. The severity of ADPKD is variable and ranges from asymptomatic to renal failure. This variability in expression and disease is evidence that this disease has multiple interrelated genetic components. Over 50% of the patients never progress to ESRD or transplantation. Further, the sequelae of ADPKD are not limited to the kidney. We discuss a case presenting with subarachnoid hemorrhage and also the most common clinical manifestations of ADPKD and their diagnosis and treatment, with specific attention given to intracranial aneurysms in ADPKD.
机译:常染色体显性遗传性多囊肾病(ADPKD)是第三种最常见的系统性遗传病。只有高胆固醇血症和显性耳硬化症会影响更多的患者。据估计,其患病率在400的1到1000的1之间。ADPKD占需要透析的终末期肾脏疾病病例的10%到15%。 ADPKD的严重程度是可变的,范围从无症状到肾衰竭。表达和疾病的这种可变性证明该疾病具有多个相互关联的遗传成分。超过50%的患者从未进展到ESRD或移植。此外,ADPKD的后遗症不限于肾脏。我们讨论了蛛网膜下腔出血以及ADPKD的最常见临床表现及其诊断和治疗的病例,并特别关注ADPKD的颅内动脉瘤。

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