Antenatal Hyperechogenic Colon and Cystinuria

Mekik Akar E., ÖZÇAKAR Z. B., ÇAKAR N., Şeker E., KOÇ F. A., Yalçınkaya F.

Clinical Pediatrics, cilt.62, sa.6, ss.548-550, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 6
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1177/00099228221140802
  • Dergi Adı: Clinical Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EBSCO Education Source, EMBASE, MEDLINE, Public Affairs Index, Veterinary Science Database
  • Sayfa Sayıları: ss.548-550
  • Anahtar Kelimeler: cystinuria, nephrolithiasis, hyperechogenic colon, prenatal diagnosis, 3RD TRIMESTER, MECONIUM
  • Ankara Üniversitesi Adresli: Evet

Özet

© The Author(s) 2022.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.