Proceso de atención nutricional en paciente femenino de 1 año 4 meses de edad con trastorno por deficiencia de CDKL5.

The present clinical case is based on a 1-year-old female patient 4 months old with a medical diagnosis of CDKL5 deficiency disorder. CDKL5 deficiency is a genetic disorder caused by a pathogenic variant in the CDLK5 gene, which is generally not inherited from any parent, which is linked to the X ch...

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Autor principal: Hurtado Moncayo, Karely Beatriz (author)
Formato: bachelorThesis
Publicado em: 2022
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Acesso em linha:http://dspace.utb.edu.ec/handle/49000/12806
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Resumo:The present clinical case is based on a 1-year-old female patient 4 months old with a medical diagnosis of CDKL5 deficiency disorder. CDKL5 deficiency is a genetic disorder caused by a pathogenic variant in the CDLK5 gene, which is generally not inherited from any parent, which is linked to the X chromosome, which causes serious alterations in neurological development, whose most frequent clinical manifestations are developmental delay, seizures and intellectual disability. The objective of this clinical case is to carry out a nutritional care plan according to their needs and consequently reduce their symptomatology, after obtaining the informed consent of the treatment by the relatives, the nutritional assessment was carried out and the nutritional status of the patient was evaluated, making a comprehensive nutritional diagnosis evidenced by anthropometric values, biochemical, clinical / physical and dietary, it was possible to make a dietary prescription of 1200 kcal / day with 71% fat, 19% carbohydrates and 10% protein (Ketogenic diet) and monitor the evolution of the diet.