fenilcetonúria materna: relato de caso maternal phenylketonuria: a case report
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2004
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Abstract
A fenilcetonúria materna é uma aminoacidopatia caracterizada por níveis elevados de fenilalanina plasmática na gestante, o que pode provocar anormalidades no desenvolvimento do feto, condição que se denomina síndrome de fenilcetonúria materna. Deve ser diagnosticada laboratorialmente, uma vez que as manifestações clínicas são inespecíficas. Relatamos um caso de paciente secundigesta, com antecedente pessoal de retardo do desenvolvimento cognitivo, sem antecedentes patológicos obstétricos, com diagnóstico laboratorial de hiperfenilalaninemia na atual gestação, sendo tratada com dieta específica. O recém-nato, nascido a termo, não apresentou alterações físicas ou defeitos congênitos confirmados. A gestação anterior, na qual não houve diagnóstico e controle da fenilcetonúria, resultou em criança com séria deficiência psicomotora confirmada, além de microcefalia e distúrbios auditivos e da fala. Com o conhecimento dos efeitos da hiperfenilalaninemia materna sobre o feto, tornam-se essenciais o diagnóstico e a instituição precoce do tratamento durante a gravidez em pacientes com suspeita clínica de fenilcetonúria. No caso aqui descrito, houve benefícios materno-fetais do tratamento dietoterápico oferecido, reforçando a importância da identificação de mulheres fenilcetonúricas em idade reprodutiva.
Maternal phenylketonuria is an aminoacid pathology characterized by elevated plasma levels of phenylalanine in the pregnant woman that may cause abnormalities in fetus development, and which is called maternal phenylketonuria syndrome. As the clinical manifestations are non-specific, the disease should be diagnosed by laboratory screening. We present a case of a second pregnancy in a woman with a history of psycho-cognitive development retardation without previous obstetric history, with diagnosis of phenylketonuria in the present gestation, treated with specific phenylalanine-free diet. The newborn did not present congenital defects. The previous gestation without maternal treatment resulted in a child with serious developmental disturbances, microcephalia and auditory-speaking deficits. Early diagnosis and treatment of hyperphenylalaninemia during pregnancy are essential, mainly because of the negative impact on fetal development. In the here reported case, there were fetal benefits from the maternal dietary treatment, which demonstrates the importance of the maternal diagnosis of phenylketonuria in women in reproductive age.
Maternal phenylketonuria is an aminoacid pathology characterized by elevated plasma levels of phenylalanine in the pregnant woman that may cause abnormalities in fetus development, and which is called maternal phenylketonuria syndrome. As the clinical manifestations are non-specific, the disease should be diagnosed by laboratory screening. We present a case of a second pregnancy in a woman with a history of psycho-cognitive development retardation without previous obstetric history, with diagnosis of phenylketonuria in the present gestation, treated with specific phenylalanine-free diet. The newborn did not present congenital defects. The previous gestation without maternal treatment resulted in a child with serious developmental disturbances, microcephalia and auditory-speaking deficits. Early diagnosis and treatment of hyperphenylalaninemia during pregnancy are essential, mainly because of the negative impact on fetal development. In the here reported case, there were fetal benefits from the maternal dietary treatment, which demonstrates the importance of the maternal diagnosis of phenylketonuria in women in reproductive age.
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figueir-filho2004revistafenilcetonria
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| Authors | ;Ernesto Antonio Figueiró-Filho;Alessandro Henrique Antunes Lopes;Flávio Renato de Almeida Senefonte;Virgilio Gonçalves de Souza Júnior;Carlos Augusto Botelho;Geraldo Duarte |
| Journal | 2018 international conference on information technologies, infotech 2018 - proceedings |
| Year | 2004 |
| DOI |
10.1590/S0100-72032004001000009
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