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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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ee3/12139241/8c2ebe30e20f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ee3/12139241/c3925b953ef9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ee3/12139241/8c2ebe30e20f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ee3/12139241/c3925b953ef9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ee3/12139241/8c2ebe30e20f/gr2.jpg

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INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.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
Kidney Med. 2024 Dec 27;7(4):100956. doi: 10.1016/j.xkme.2024.100956. eCollection 2025 Apr.
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本文引用的文献

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Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).需要与常染色体显性遗传性多囊肾病（ADPKD）进行鉴别诊断的囊性肾病。
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Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.成人起病型肾髓质囊性病的遗传背景及临床病理特征
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Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4
.一名患有肾单位肾痨4型的25岁日本男性的肾脏组织学和磁共振成像
Clin Nephrol. 2018 Mar;89(3):223-228. doi: 10.5414/CN109175.
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Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.患有1型口面指综合征和肾小球囊性肾病的母女。
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Volume analyzer SYNAPSE VINCENT for liver analysis.用于肝脏分析的容积分析仪SYNAPSE VINCENT
J Hepatobiliary Pancreat Sci. 2014 Apr;21(4):235-8. doi: 10.1002/jhbp.81. Epub 2014 Feb 12.