Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário

Amâncio, Fátima Aparecida Mazzini; Scalco, Fernanda B.; Coelho, Cláudio Antônio Rabello

doi:10.1590/s1676-24442007000300005

Cited by 6 publications

(15 citation statements)

References 12 publications

(9 reference statements)

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“…A frequência de EIM encontrada no presente estudo, que foi de 3,6% (2/55) é menor do que a de 7,2% 15 e, similar à de 3% 24 e maior do que 1,98%, 14 encontrado em estudos sobre EIM. Dos dois pacientes de EIM deste trabalho, um é o caso de MPS do tipo IIIB, a qual é causada pela deficiência da enzima Alfa-N-acetilglicosaminidase, culminando com o acúmulo nos lisossomos de glicosaminoglicanos.…”

Section: Variávelunclassified

Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo

Brito-Silva

Oliveira

Silva

2012

Rev. Bras. Saude Mater. Infant.

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Objectives: to provide an anthropometric evaluation of patients suspected of having innate errors of metabolism (IEMs) and report the prevalence of nutritional disorders (malnutrition, overweight and obesity Key words Anthropometry, Metabolism, inborn errors, Nutritional status Resumo Objetivos:avaliar antropometricamente os pacientes com suspeita de erros inatos do metabolismo (EIM) e descrever a prevalência de distúrbios nutricionais (desnutrição, sobrepeso e obesidade). Métodos: foram avaliados 55 pacientes de 0 a 10 anos, de acordo com os índices antropométricos (A/I, P/I E P/A e IMC/I), no laboratório de erros inatos do metabolismo (LEIM) da Universidade Federal do Palavras-chave Antropometria, Erros inatos do metabolismo, Estado nutricional

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Section: Variávelunclassified

Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo

Brito-Silva

Oliveira

Silva

2012

Rev. Bras. Saude Mater. Infant.

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“…A specialized pediatrician with access to laboratory tests will reach a diagnosis of IEM in approximately 6 % of cases, according to estimations. 3 …”

Section: Introductionmentioning

confidence: 99%

“…The most frequently inheritance pattern involved is the autosomal recessive pattern, with possible X-linked recessive inheritance and, more rarely, an autosomal dominant mechanism. 3 , 4…”

Section: Introductionmentioning

confidence: 99%

“…Several factors contribute to the difficulty in diagnosing IEM, such as the large number of disorders, the diversity of defects involved and the absence of specific signs and symptoms in most cases, causing these pathologies to be only considered by the pediatrician later. 3 , 6 The laboratory techniques required for the diagnosis of IEM include from metabolic screenings in urine and plasma to enzyme assays in leukocytes, fibroblasts and, more rarely, molecular analysis.…”

Section: Introductionmentioning

confidence: 99%

“…Recent advances in the diagnosis and treatment of IEM have significantly improved prognosis for many of these diseases. 3 Considering the technical difficulties and costs involved, proper guidance on laboratory investigation based on the main clinical and laboratory findings is important. 3 Therefore, this study aimed to assess the initial clinical presentation of the cases with a confirmed diagnosis of IEM at a reference facility for pediatric care.…”

Section: Introductionmentioning

confidence: 99%

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Apresentação Clínica Inicial Dos Casos De Erros Inatos Do Metabolismo De Um Hospital Pediátrico De Referência: Ainda Um Desafio Diagnóstico

Romão¹,

Simon²,

Góes

et al. 2017

Rev. paul. pediatr.

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Objective: To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care.Methods: Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion criterion: referral to IEM investigation. Exclusion criterion: prior diagnosis of IEM. Analyzed variables: identification data; status of diagnostic investigation; family history of IEM; initial clinical presentation, laboratory abnormalities related to the hypothesis of IEM. Descriptive statistical methods were used in the data analysis.Results: We included 144 patients in the study, of which 62.5% were male. The mean and median ages were, respectively, 4.3 ± 4.7 years and 2.6 years. Twelve patients (8.3%) had a confirmed diagnosis of IEM (three with aminoacidopathies, three with organic acidemias, two with urea cycle disorders and four with lysosomal storage diseases). Cognitive impairment and seizures were the initial signs and symptoms, followed by growth retardation, neuropsychomotor developmental delay, seizures and hepatomegaly. The main laboratory abnormalities in the diagnosis were hyperammonemia and metabolic acidosis.Conclusions: The diagnosis of IEM still creates challenges to the pediatric practice. In this study, we identified the following factors: difficulty to access specific laboratory tests, reduced number of experts and poor dissemination of knowledge among healthcare schools. The early diagnosis of IEM majorly impacts the treatment and prevention of sequelae and should be considered in the initial diagnostic hypotheses.

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A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children

Ali

Hafeez

Ijaz

et al. 2018

J Coll Physicians Surg Pak

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Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário

Cited by 6 publications

References 12 publications

Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo

Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo

Apresentação Clínica Inicial Dos Casos De Erros Inatos Do Metabolismo De Um Hospital Pediátrico De Referência: Ainda Um Desafio Diagnóstico

A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children

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