Lirenman D S, Brianlowry R, Chase W H
Birth Defects Orig Artic Ser. 1974;10(4):32-4.
Familial juvenile nephronophthisis (FJN) has an incidence in British Columbia of 1 per 50000 live births which gives a heterozygote frequency of 1 per 115. The authors report six families with a total of 11 cases. Multiple affected sibs are described in three families and in no instance was the condition present in more than one generation. The inheritance pattern is consistant with an autosomal recessive trait. The characteristic features are polyuria and azotemia though the presenting features may be either anemia or growth retardation with polyuria being elicited in the functional inquiry. There is a very hypotonic urine and absence of urinary sediment. Decreasing renal function at a variable rate is the fate of these patients, three of whom have had cadaver transplants.
家族性青少年肾单位肾痨（FJN）在不列颠哥伦比亚省的发病率为每50000例活产中有1例，由此得出杂合子频率为每115人中有1例。作者报告了6个家族，共11例病例。3个家族中有多个患病同胞，且无一例该病症出现在一代以上。遗传模式符合常染色体隐性性状。特征性表现为多尿和氮质血症，尽管首发表现可能是贫血或生长发育迟缓，在功能询问中可引出多尿症状。尿液渗透压极低且无尿沉渣。这些患者的肾功能会以不同速率下降，其中3人已接受尸体肾移植。
