{"title":"INVS突变相关的NPHP2肾炎伴肾小球囊肿病：病例报告","authors":"Yuichiro Sawada , Akinari Sekine , Yuki Oba , Masayuki Yamanouchi , Tatsuya Suwabe , Kei Kono , Keiichi Kinowaki , Kenichi Ohashi , Yutaka Yamaguchi , Takuya Fujimaru , Takayasu Mori , Eisei Sohara , Shinichi Uchida , Takehiko Wada , Naoki Sawa , Yoshifumi Ubara","doi":"10.1016/j.xkme.2024.100956","DOIUrl":null,"url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":17885,"journal":{"name":"Kidney Medicine","volume":"7 4","pages":"Article 100956"},"PeriodicalIF":3.2000,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report\",\"authors\":\"Yuichiro Sawada , Akinari Sekine , Yuki Oba , Masayuki Yamanouchi , Tatsuya Suwabe , Kei Kono , Keiichi Kinowaki , Kenichi Ohashi , Yutaka Yamaguchi , Takuya Fujimaru , Takayasu Mori , Eisei Sohara , Shinichi Uchida , Takehiko Wada , Naoki Sawa , Yoshifumi Ubara\",\"doi\":\"10.1016/j.xkme.2024.100956\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>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.</div></div>\",\"PeriodicalId\":17885,\"journal\":{\"name\":\"Kidney Medicine\",\"volume\":\"7 4\",\"pages\":\"Article 100956\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2024-12-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kidney Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2590059524001675\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kidney Medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590059524001675","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report
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.
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