A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care.
East Mediterr Health J
; 24(11): 1103-1111, 2019 Jan 23.
Article
em En
| MEDLINE
| ID: mdl-30701526
ABSTRACT
BACKGROUND:
Although inborn errors of metabolism (IEM) are rare individually, collectively IEM cause substantial morbidity and mortality and the diagnosis is challenging.AIMS:
To analyse epidemiological and clinical data, final diagnosis and clinical outcomes of patients with a suspected diagnosis of IEM (small molecule disorders type) admitted to a paediatric intensive care unit (PICU).METHODS:
We collected and analysed medical records data of all patients admitted to the PICU at Alexandria University Children's Hospital, from January 2010 to December 2014, with a suspected or confirmed diagnosis of small molecule disorders, including clinical presentations, laboratory results and clinical outcomes.RESULTS:
A total of 34 patients had a suspected or confirmed diagnosis of small molecule disorders at PICU admission. Diagnosis was confirmed in 22.7% of suspected cases at admission and in 25% of suspected cases during PICU stay. Consanguineous marriage was found in 50% of cases with confirmed small molecule disorders.CONCLUSIONS:
A high index of suspicion is important for diagnosing and categorizing small molecule disorders in screening of high-risk individuals in low- and middle-income countries.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Unidades de Terapia Intensiva Pediátrica
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Child
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Child, preschool
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Female
/
Humans
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Infant
/
Male
/
Newborn
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article