Sugimoto Keisuke, Miyazawa Tomoki, Enya Takuji, Nishi Hitomi, Miyazaki Kohei, Okada Mitsuru, Takemura Tsukasa
Department of Pediatrics, Kinki University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-Sayama, 589-8511, Japan.
Clin Exp Nephrol. 2016 Aug;20(4):637-649. doi: 10.1007/s10157-015-1180-5. Epub 2015 Oct 23.
Nephronophthisis (NPH) accounts for 4-5 % of end-stage renal disease occurring in childhood.
We investigated the clinical context and characteristics of renal and extrarenal symptoms, as well as the NPHP genes, in 35 Japanese patients with clinical and histologic features suggesting NPH.
NPH occurred fairly uniformly throughout Japan irrespective of region or gender. In three families, NPH affected siblings. The median age of patients was 12.5 years. Renal abnormalities attributable to NPH discovered through mass screening, such as urine tests in school. However, NPH accounted for less than 50 % of children with abnormal findings, including incidentally discovered renal dysfunction during evaluation of extrarenal symptoms or during routine check-ups. Typical extrarenal manifestations leaded to discovery including anemia and delayed physical development. The urine often showed low gravity specific density and low molecular weight proteinuria. Frequent renal histologic findings included cystic dilation of tubules, mainly in the medulla, and irregularity of tubular basement membranes. Genetically abnormalities of NPHP1 were not common, with large deletions frequently noted. Compound heterozygotes showing single abnormalities in each of NPHP1, NPHP3, and NPHP4 were observed.
Our findings resemble those reported in Western populations.
肾单位肾痨（NPH）占儿童期终末期肾病的4% - 5%。
我们调查了35例具有临床和组织学特征提示为NPH的日本患者的临床背景、肾脏及肾外症状特征以及NPHP基因情况。
NPH在日本各地发病情况较为一致，与地区或性别无关。在三个家庭中，NPH影响了兄弟姐妹。患者的中位年龄为12.5岁。通过大规模筛查发现的归因于NPH的肾脏异常，比如学校的尿检。然而，在有异常发现的儿童中，NPH占比不到50%，包括在评估肾外症状或常规体检期间偶然发现的肾功能不全。典型的肾外表现导致其被发现，包括贫血和身体发育迟缓。尿液常显示低比重和低分子量蛋白尿。常见的肾脏组织学表现包括肾小管囊性扩张，主要在髓质，以及肾小管基底膜不规则。NPHP1基因异常并不常见，常可见大片段缺失。观察到在NPHP1、NPHP3和NPHP4中各有单个异常的复合杂合子。
我们的研究结果与西方人群报道的结果相似。
