Mathis B J, Calabrese K E, Slick G L
Tulsa Regional Medical Center, Okla.
J Am Osteopath Assoc. 1992 Jul;92(7):875-80, 883-4.
Seventy-three members of a 100-member kindred with asymptomatic proteinuria, nephrotic syndrome, and progressive renal failure were studied. Of those studied, 11 members had progressed to end-stage renal disease and seven had significant proteinuria (greater than 1 g/24 hours) with normal renal function. The genetic mode of inheritance was autosomal dominant with variable penetrance and expressivity. Histopathologic changes were variable but included focal segmental glomerulosclerosis and diffuse glomerulosclerosis. Renal failure usually occurred in the fifth decade of life. The most consistent clinical finding was proteinuria without microscopic hematuria or other significant urinary sediment elements. This disease differed from Alport's hereditary nephritis and congenital nephrotic syndrome in age of onset, urinary findings, and associated conditions, that is, nerve deafness. The hereditary proteinuria and nephrotic syndrome described in this kindred represents another facet in the spectrum of hereditary renal disease.
对一个有100名成员的家族中73名患有无症状蛋白尿、肾病综合征和进行性肾衰竭的成员进行了研究。在这些被研究的成员中,11名已进展至终末期肾病,7名有显著蛋白尿(超过1g/24小时)且肾功能正常。遗传方式为常染色体显性遗传,具有可变的外显率和表现度。组织病理学改变多样,但包括局灶节段性肾小球硬化和弥漫性肾小球硬化。肾衰竭通常发生在生命的第五个十年。最一致的临床发现是蛋白尿,无镜下血尿或其他显著的尿沉渣成分。这种疾病在发病年龄、尿液检查结果及相关病症(即神经性耳聋)方面与阿尔波特遗传性肾炎和先天性肾病综合征不同。这个家族中所描述的遗传性蛋白尿和肾病综合征代表了遗传性肾病谱系中的另一个方面。