Antenatal Hyperechogenic Colon and Cystinuria

• Published in: Clinical pediatrics Vol. 62; no. 6; p. 548
• Main Authors: Mekik Akar, Ece, Özçakar, Zeynep Birsin, Çakar, Nilgün, Şeker, Erdal, Koç, Acar, Yalçınkaya, Fatoş
• Format: Journal Article
• Language: English
• Published: United States 01.06.2023
• Subjects: Colon - diagnostic imaging; Cystinuria - diagnostic imaging; Cystinuria - genetics; Cystinuria - metabolism; Female; Humans; Infant, Newborn; Male; Mutation; Pregnancy; nephrolithiasis; cystinuria; prenatal diagnosis; hyperechogenic colon

A male newborn was investigated for history of antenatal hyperechogenic colon (HEC) detected at 32 weeks of gestation. In the first week of life, urinary ultrasonography showed nephrolithiasis. Urinary amino acid analysis expressed increased excretion of dibasic amino acids, and high urinary cystine...