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 in | Clinical pediatrics Vol. 62; no. 6; p. 548 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
01.06.2023
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| Subjects | |
| Online Access | Get more information |
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| 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
gene. Antenatal presentation of cystinuria with HEC is rare and reported to be associated with a more severe disease course. |
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| AbstractList | 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. |
| Author | Yalçınkaya, Fatoş Çakar, Nilgün Şeker, Erdal Özçakar, Zeynep Birsin Mekik Akar, Ece Koç, Acar |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/36457163$$D View this record in MEDLINE/PubMed |
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| Keywords | nephrolithiasis cystinuria prenatal diagnosis hyperechogenic colon |
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| Snippet | 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... |
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| SubjectTerms | Colon - diagnostic imaging Cystinuria - diagnostic imaging Cystinuria - genetics Cystinuria - metabolism Female Humans Infant, Newborn Male Mutation Pregnancy |
| Title | Antenatal Hyperechogenic Colon and Cystinuria |
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