{"title":"产前肾盆腔超声灶能支持胱氨酸尿症的诊断吗?","authors":"Erdal Şeker, Hasan Süt, Seçkin Özışık, Acar Koç","doi":"10.4274/jtgga.galenos.2022.2021-11-5","DOIUrl":null,"url":null,"abstract":"<p><p>Cystinuria is an inherited disease caused by a defect in renal and intestinal tubular transport affecting cystine and dibasic amino acids (lysine, ornithine and arginine). It is transmitted as an autosomal recessive disease. On fetal ultrasound, the colon is usually seen as hypoechoic or isoechoic. Antenatal hyperechoic appearance of the fetal colon was previously considered as a normal variant. However, recent studies have shown that hyperechoic colon is associated with cystinuria. We present a case of cystinuria, who was referred to us due to fetal hyperechogenic colon at 32 weeks of gestation. Additional fetal pericalyceal echogenic focal structures were observed on ultrasonography. The diagnosis of cystinuria was confirmed in the postnatal period.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2022-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/d6/JTGGA-23-327.PMC9743348.pdf","citationCount":"0","resultStr":"{\"title\":\"Can prenatal renal pelvicalyceal echogenic foci support the diagnosis of cystinuria?\",\"authors\":\"Erdal Şeker, Hasan Süt, Seçkin Özışık, Acar Koç\",\"doi\":\"10.4274/jtgga.galenos.2022.2021-11-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cystinuria is an inherited disease caused by a defect in renal and intestinal tubular transport affecting cystine and dibasic amino acids (lysine, ornithine and arginine). It is transmitted as an autosomal recessive disease. On fetal ultrasound, the colon is usually seen as hypoechoic or isoechoic. Antenatal hyperechoic appearance of the fetal colon was previously considered as a normal variant. However, recent studies have shown that hyperechoic colon is associated with cystinuria. We present a case of cystinuria, who was referred to us due to fetal hyperechogenic colon at 32 weeks of gestation. Additional fetal pericalyceal echogenic focal structures were observed on ultrasonography. The diagnosis of cystinuria was confirmed in the postnatal period.</p>\",\"PeriodicalId\":1,\"journal\":{\"name\":\"Accounts of Chemical Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":16.4000,\"publicationDate\":\"2022-12-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/d6/JTGGA-23-327.PMC9743348.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Accounts of Chemical Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/jtgga.galenos.2022.2021-11-5\",\"RegionNum\":1,\"RegionCategory\":\"化学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CHEMISTRY, MULTIDISCIPLINARY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/jtgga.galenos.2022.2021-11-5","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
Can prenatal renal pelvicalyceal echogenic foci support the diagnosis of cystinuria?
Cystinuria is an inherited disease caused by a defect in renal and intestinal tubular transport affecting cystine and dibasic amino acids (lysine, ornithine and arginine). It is transmitted as an autosomal recessive disease. On fetal ultrasound, the colon is usually seen as hypoechoic or isoechoic. Antenatal hyperechoic appearance of the fetal colon was previously considered as a normal variant. However, recent studies have shown that hyperechoic colon is associated with cystinuria. We present a case of cystinuria, who was referred to us due to fetal hyperechogenic colon at 32 weeks of gestation. Additional fetal pericalyceal echogenic focal structures were observed on ultrasonography. The diagnosis of cystinuria was confirmed in the postnatal period.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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