Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis
| Autor: | Chaowen Yu, Xiaowen Li, Jingkun Miao, Xiaoyan He, Hao Liu, Chun Li |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Organic Anion Transporters Citrin deficiency Cholestasis Intrahepatic Urine Mitochondrial Membrane Transport Proteins Genetic analysis Gastroenterology Cholestasis Internal medicine medicine Humans Neonatal cholestasis Child Retrospective Studies Citrullinemia business.industry Infant Newborn Infant General Medicine medicine.disease Mutation Differential diagnosis Target gene business Research Article Urine organic acids |
| Zdroj: | Zhejiang Da Xue Xue Bao Yi Xue Ban |
| ISSN: | 1008-9292 |
| Popis: | OBJECTIVE: To compare the clinical and genetic characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and idiopathic neonatal cholestasis (INC). METHODS: The clinical data of 30 patients with NICCD and 30 patients with INC admitted in Children’s Hospital of Chongqing Medical University during September 2012 and December 2017 were retrospectively analyzed. The clinical manifestations, biochemical indicators and genetic characteristics were compared between two groups. RESULTS: Patients in both groups presented similar clinical manifestations, however the chubby face and clay-colored stool were more common in NICCD patients (both PA and c.919G>T were two novel mutations. CONCLUSIONS: The manifestations of chubby face and clay-colored stool may provide clue for early diagnosis of NICCD along with the elevated biochemical parameters, such as ammonium, alpha-fetal protein, citrulline in blood and 4-hydroxyphenyllactic acid, 4-hydroxyphenylpyruvic acid, phenyllactic acid in urine. Target gene trapping and high-throughput sequencing have the key values in diagnosis and differential diagnosis of NICCD. |
| Databáze: | OpenAIRE |
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