Antenatal Hyperechogenic Colon and Cystinuria

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...

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Published inClinical 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
LanguageEnglish
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
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Summary: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 levels were detected in both spot and 24-hour urine specimens. He was diagnosed as cystinuria, and genetic analysis of the patient revealed a heterozygous mutation in gene. Antenatal presentation of cystinuria with HEC is rare and reported to be associated with a more severe disease course.
ISSN:1938-2707
DOI:10.1177/00099228221140802