Hyperechogenic colon and cystinuria. Interest of antenatal diagnosis

Cystinuria, an inherited autosomal recessive meta- bolic disorder, is characterized by the inadequate reabsorp- tion of dibasic amino acids in the proximal convoluted tubules during the filtering process in the kidneys. Homo- zygous patients make cystine stones, and in the long term this causes renal failure. In the service of gynecology- obstetrics of the hospital of The Conception and in the antenatal diagnostic centre of the hospital of Timone, we observed a patient whose fetus showed a hyperechogenic colon during the third term obstetric ultrasonography. The genetic investigation confirmed the diagnosis of cystinuria in the fetus and in other siblings. A premature diagnosis of cys- tinuria can therefore prevent the complications of cystinuria by applying simple remedies like hyperhydration and alkali- zation. To cite this journal: Rev. Med. Perinat. 2 (2010).