Nephrology Center, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
Okinaka Memorial Institute for Medical Research, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
BMC Nephrol. 2019 Aug 28;20(1):337. doi: 10.1186/s12882-019-1524-6.
Autosomal dominant polycystic kidney disease (ADPKD) may manifest non-nephrotic range proteinuria, but is rarely complicated with nephrotic syndrome. Limited number of reports describe the histology of ADPKD with nephrotic syndrome in detail.
We encountered a 23-year-old man with polycystic kidney disease (PKD) with small kidney volume and nephrotic syndrome, which eventually progressed to end-stage renal disease. Renal histology showed typical focal segmental glomerulosclerosis and remarkable glomerular cyst formation, but did not reveal tubular cysts. PKD1 mutation was detected in him and his father, who also had PKD with small kidney volume.
In contrast to tubular cysts which develop along ADPKD progression, glomerular cysts may likely be associated with ADPKD with slower volume progression manifesting small kidney volume. Although previous investigations report that ADPKD with smaller kidney volume is attributed to slower decline in renal function, coexistence of nephrotic-range proteinuria implies complication of other glomerular diseases and needs histological evaluation since it may lead to poor renal outcome.
常染色体显性多囊肾病（ADPKD）可能表现为非肾病范围蛋白尿，但很少合并肾病综合征。为数不多的报道详细描述了伴有肾病综合征的 ADPKD 的组织学特征。
我们遇到了一名 23 岁的男性，患有多囊肾病（PKD），伴有小肾体积和肾病综合征，最终进展为终末期肾病。肾脏组织学显示典型的局灶节段性肾小球硬化和明显的肾小球囊肿形成，但未发现肾小管囊肿。他和他的父亲都携带 PKD1 突变，其父亲也患有小肾体积的 PKD。
与沿着 ADPKD 进展形成的肾小管囊肿不同，肾小球囊肿可能与进展较慢、表现为小肾体积的 ADPKD 相关。尽管之前的研究报告称，小肾体积的 ADPKD 归因于肾功能下降较慢，但肾病范围蛋白尿的存在提示合并其他肾小球疾病，需要进行组织学评估，因为这可能导致不良的肾脏结局。
