Journal of Clinical Pediatrics >
Clinical analysis of urea cycle disorders in 5 neonates
Received date: 2022-12-13
Online published: 2023-04-07
Objective To summarize the clinical features, diagnosis and treatment, regression and prognosis of 5 neonatal urea cycle disorders (UCDs) in order to improve the understanding of the disease. Methods The clinical characteristics, treatment and prognosis of 5 neonatal UCDs confirmed by gene sequencing admitted from July 2017 to July 2022 were retrospectively analyzed. Results The gestational age of the five neonates (4 boys and 1 girl) was (39.0±1.2) weeks, the birth weight was (3642.0±511.6) g, the age of onset was 2(1-5) days, and the initial blood ammonia level was (1386.8±398.4) μmol/L. The onset characteristics of the children were poor appetite (3 cases), hypothermia (2 cases), shortness of breath (2 cases) and vomiting (1 case). All the children had hypotonia, disturbance of consciousness and convulsion. The primary disease was ornithine transcarbamylase deficiency (OTCD) in 3 cases and carbamoyl phosphate synthase 1 deficiency (CPS1D) in 2 cases. Decreased citrulline and increased urinary orotate was found in children with OTCD, and there were three gene pathogenic variants, among which c.177delA and c.387-1G>T were new variants. In CPS1D children, citrulline was decreased, urinary orotate concentration was normal or decreased, and four variation loci were found by gene sequencing, among which c.548T>C and c.3G>C were new variants. All 5 neonates with UCDs were treated with diet control and medication followed by dialysis for rapid clearance of ammonia, and the blood ammonia level in 3 of them decreased to (164.0±47.1) μmol/L. However, due to the poor prognosis of the nervous system, 4 patients died and 1 patient survived. The surviving neonate underwent liver transplantation at the age of 1 year and was followed up until December 2022. The child had delayed language and motor development. Conclusions UCDs in newborns have a high mortality rate and a poor prognosis, and the clinical features are often unspecific. Early blood ammonia detection is the key to detect the disease, and genetic analysis can confirm the diagnosis. Early and effective intervention can save the children’s life and improve their neurological prognosis.
Key words： hyperammonemia; urea cycle disorder; clinical analysis; neonate
Xiaoyun CHU , Yifan SUN , Chongbing YAN , Wenchao HONG , Xiaohui GONG , Cheng CAI . Clinical analysis of urea cycle disorders in 5 neonates[J]. Journal of Clinical Pediatrics, 2023 , 41(4) : 266 -271 . DOI: 10.12372/jcp.2023.22e1656
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