与INVS突变相关的NPHP2肾单位肾痨合并肾小球囊性疾病：一例报告

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.

作者信息

Sawada Yuichiro, Sekine Akinari, Oba Yuki, Yamanouchi Masayuki, Suwabe Tatsuya, Kono Kei, Kinowaki Keiichi, Ohashi Kenichi, Yamaguchi Yutaka, Fujimaru Takuya, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Wada Takehiko, Sawa Naoki, Ubara Yoshifumi

机构信息

Nephrology Center and the Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Japan.

Department of Pathology, Toranomon Hospital, Japan.

出版信息

Kidney Med. 2024 Dec 27;7(4):100956. doi: 10.1016/j.xkme.2024.100956. eCollection 2025 Apr.

DOI:10.1016/j.xkme.2024.100956

PMID:40475304

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12139241/

Abstract

We examined a 68-year-old woman with decreased renal function (serum creatinine level of 1.77 mg/dL) and polycystic kidney disease. Magnetic resonance imaging revealed multiple bilateral renal cysts with uniform low intensity on T1-weighted images and uniform high intensity on T2-weighted ones but no mixed intensity cysts. Kidney biopsy findings included collapsed glomerular structures within dilated cyst-like structures. Glomerulocystic disease was diagnosed. Genetic analysis revealed 2 different INVS (nephronophthisis 2 [NPHP2]) compound heterozygous missense mutations. The NPHP2 is usually found in infants, and to our knowledge, this is the first report of an older patient with NPHP2.

摘要

我们检查了一名68岁肾功能减退（血清肌酐水平为1.77mg/dL）且患有多囊肾病的女性。磁共振成像显示双侧多个肾囊肿，在T1加权图像上呈均匀低信号，在T2加权图像上呈均匀高信号，但无混合信号囊肿。肾活检结果包括扩张的囊肿样结构内肾小球结构塌陷。诊断为肾小球囊肿病。基因分析发现2种不同的INVS（肾痨2 [NPHP2]）复合杂合错义突变。NPHP2通常见于婴儿，据我们所知，这是首例关于NPHP2的老年患者报告。