Dieta zetogenikoa umeetan den epilepsia erregogorraren tratamendu dietoterapeutiko gisa

Abstract

[EUS] Ebidentzia zientifikoaren arabera, glukosa ezinbestekoa da garunaren funtzionamendu egokia aurrera eramateko. Honela, hesi hematoentzefalikoa zeharkatu ostean, GLUT-1 proteina garraiatzaileak glukosa garunera bideratzen du. GLUT-1 kodifikatzen duen genean mutazioa ematen bada, glukosak garunera heltzeko ezintasuna izango du. Ezintasun horrek epilepsia, garapen neuronalean akatsak, ataxia eta ez-ohiko mugimenduak eragin ditzake. Asaldura hauek, batzuetan, ez dira epilepsiaren aurkako farmakoen bidez sendatzen, ondorioz, epilepsia erregogorra garatzen da (kasuen %20-30ean ematen delarik).

Baraua, epilepsiaren tratamendurako terapia eraginkortzat jo izan da; gaur egun barauaren alternatiba dietetiko gisa, dieta zetogenikoa proposatzen da. Epilepsiaren aurkako farmakoen garapenaren ondorioz ostera, dieta zetogenikoa baztertua geratu zen, eta epilepsia erregogorra pairatzen duten haurren krisien kontrolean lortutako emaitza onuragarriak frogatu ziren arte ez da dieta honen inguruko interesa berpiztu. Dieta zetogenikoa gantzetan aberatsa eta karbohidratoetan eskasa da, eta osasunean kalterik eragin gabe hartu daitekeen proteina kopuru minimoan oinarritzen da. Horrela, barauarekin lotutako aldaketa biokimikoak birsortzeko eta horrek krisi epileptikoen bilakaeran duen eragina bermatzeko erabili daiteke terapia dietoterapeutiko gisa.

GLUT-1 urritasun sindromea pairatzen duten umeen %80-90ak dieta zetogenikoarekiko ondo erantzuten du, eta alerta mailan, psikomotrizitatean, arretan etab. modu positiboan eragiteaz gain, krisien erabateko desagertzea ematen da pazienteen %50-60an. Dieta zetogenikoaren arrakasta modu progresibo eta autonomo batean ezarritako tratamenduaren bidez lortzen da. GLUT-1 urritasun sindromea pairatzen duten umeetan eguneko ratio zetogenikoa (eguneko hartu beharreko gantz gramoen doitzea, proteina eta karbohidrato gramoekin alderatuta) zaindu beharko da, otorduetako gantz kopurua handituz. Makronutrienteen eta mikronutrienteen aldetik desoreka eragin dezakeen tratamendu dietetikoa denez, garrantzitsua izango da gehigarri nutrizionalak hartzea. Desoreka hau dela eta, dieta zetogenikoak eragin ditzakeen asaldura akutuak (arazo gastrointestinalak, nagusiki) zein kronikoak (dislipemiak, hazkuntzaren gelditzea…) saihestu edo zuzendu beharko dira.

Aipatutako guztia kontuan izanik, lan honen helburua GLUT-1 proteina garraiatzailearen urritasunaren ondorioz garatu daitekeen epilepsia erregogorraren tratamendu dietetiko gisa erabiltzen den dieta zetogenikoaren eraginkortasuna azaltzea eta ebaluatzea da.

[EN] According to scientific evidence, glucose is essential for the proper brain functioning. After crossing the blood-brain barrier, GLUT-1 transporter protein carries glucose to the brain. However, if a mutation occurs in the gene encoding GLUT-1, glucose will not be able to reach the brain. This inability can lead to epilepsy, neurodevelopmental failure, ataxia and abnormal movements (in 20-30% of cases). These disorders cannot be cured by anti-epileptic drugs, which leads to refractory epilepsy.

In this situation, fasting is the only effective diet therapy for the treatment of epilepsy, and the ketogenic diet is currently proposed as a diet alternative for fasting. However, as a consequence of the development of anti-epileptic drugs, the ketogenic diet was excluded, and it was not until the beneficial results in controlling epilepsy seizures in children suffering from refractory epilepsy were demonstrated that interest in this diet was revived. The ketogenic diet is high in fat and low in carbohydrates, and is based on the minimum amount of protein that can be consumed without harm for health. Thus, it can be used as a diet therapy to regenerate fasting-related biochemical changes and to ensure its effect on the course of epileptic seizures.

80-90% of children suffering from GLUT-1 deficiency syndrome respond well to the ketogenic diet. In addition to influencing the level of alertness, psychomotor skills or attention, there is also a complete disappearance of seizures in 50-60% of patients. The success of the ketogenic diet is achieved through a treatment implemented progressively and autonomously. In children suffering from GLUT-1 deficiency syndrome it is only necessary to take into account the daily ketogenic ratio (adjusting the number of grams of fat to be taken per day, compared to the grams of protein and carbohydrates), by increasing the number of fat in the meals. Therefore, being an unbalanced dietary treatment in macronutrient and micronutrient level, it is important to take nutritional supplements. Due to this unbalance, the ketogenic diet can lead to acute affects (mainly gastrointestinal problems) or chronic disorders (dyslipidemia, stagnation of growth, etc.), that should be prevented or corrected.

Taking into account the above, the aim of this study is to explain and evaluate the efficacy of the ketogenic diet used as a dietary treatment for epilepsy that may appear as a consequence of GLUT-1 transporter protein deficiency.