Abstract
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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
More From: Journal of the Turkish German Gynecological Association
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.