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. 2023 Jun;62(6):548-550.
doi: 10.1177/00099228221140802. Epub 2022 Dec 1.

Antenatal Hyperechogenic Colon and Cystinuria

Ece Mekik Akar  1 , Zeynep Birsin Özçakar  1 , Nilgün Çakar  1 , Erdal Şeker  2 , Acar Koç  2 , Fatoş Yalçınkaya  1
Affiliations

Antenatal Hyperechogenic Colon and Cystinuria

Ece Mekik Akar et al. Clin Pediatr (Phila). 2023 Jun.

Abstract

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 SLC7A9 gene. Antenatal presentation of cystinuria with HEC is rare and reported to be associated with a more severe disease course.

Keywords: cystinuria; hyperechogenic colon; nephrolithiasis; prenatal diagnosis.

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Conflict of interest statement

Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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