Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
J Pediatr
; 162(2): 324-9.e1, 2013 Feb.
Article
em En
| MEDLINE
| ID: mdl-22901741
OBJECTIVE: To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl phosphate synthase 1 (CPSD), ornithine transcarbamylase (OTCD), argininosuccinate synthase (ASD), or argininosuccinate lyase (ALD). STUDY DESIGN: Clinical, biochemical, and neuropsychological data from 103 subjects with neonatal-onset UCDs were derived from the Longitudinal Study of Urea Cycle Disorders, an observational protocol of the Urea Cycle Disorders Consortium, one of the Rare Disease Clinical Research Networks. RESULTS: Some 88% of the subjects presented clinically by age 7 days. Peak ammonia level was 963 µM in patients with proximal UCDs (CPSD or OTCD), compared with 589 µM in ASD and 573 µM in ALD. Roughly 25% of subjects with CPSD or OTCD, 18% of those with ASD, and 67% of those with ALD had a "honeymoon period," defined as the time interval from discharge from initial admission to subsequent admission for hyperammonemia, greater than 1 year. The proportion of patients with a poor outcome (IQ/Developmental Quotient <70) was greatest in ALD (68%), followed by ASD (54%) and CPSD/OTCD (47%). This trend was not significant, but was observed in both patients aged <4 years and those aged ≥ 4 years. Poor cognitive outcome was not correlated with peak ammonia level or duration of initial admission. CONCLUSION: Neurocognitive outcomes do not differ between patients with proximal UCDs and those with distal UCDs. Factors other than hyperammonemia may contribute to poor neurocognitive outcome in the distal UCDs.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distúrbios Congênitos do Ciclo da Ureia
Tipo de estudo:
Guideline
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Observational_studies
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Risk_factors_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos