X’E BAĞLI ADRENOLÖKODİSTROFİ (ALD) HASTALIĞI VE TEDAVİ SÜRECİNDE LORENZO’NUN YAĞI KULLANIMI

Abstract

X’e bağlı adrenolökodistrofi hastalığı (ALD), yağların beta oksidasyonundaki bozukluk sebebiyle çok uzun zincirli yağ asitlerinin (ÇUZYA) kanda birikimine sebep olan peroksizomal bir hastalık olarak bilinmektedir. Bu birikim santral sinir sistemini ve adrenal korteksi etkileyerek motor ve mental işlevlerde bozukluğa yol açmaktadır. Klinik spektrumda hızlı ilerleyen demiyelinizasyon veya yavaş ilerleyen miyelopatiden adrenal yetersizliğe kadar uzanmaktadır. En sık görülen formları; çocukluk dönemi serebral form, Addison ve Adrenomiyelonöropati (AMN)’dir. Tüm popülasyonda görülme sıklığı 1.3/100.000 olmakla birlikte, erkeklerde görülme sıklığı 1/20.000 olarak bildirilmektedir. Asemptomatik ALD hastalarında diyete oleik ve erusik asidin trigeliserit formlarını (yenilebilir form) içeren Lorenzo’nun Yağı’nın eklenmesi ile düzelme görülebilmektedir. Bu sebeple erken tanı ve teşhis büyük önem taşımaktadır.

Keywords

• X-linked adrenolökodistrofi,ALD,Lorenzo’nun Yağı,diyet tedavisi

X-LINKED ADRENOLEUKODYSTROPHY (ALD) DISEASE AND USAGE OF LORENZO'S OIL IN THE TREATMENT PROCESS

Abstract

X-linked adrenoleukodystrophy disease (ALD) is known as a peroxisomal disease which causes accumulation of very long-chain fatty acids (VLCFA) in the blood due to the deficiency in the beta oxidation of fats. This accumulation affects the central nervous system and adrenal cortex and causes deterioration in motor and mental functions. The clinical spectrum ranges from rapid progressive demyelination or slowly progressing myelopathy to adrenal insufficiency. The most common forms; childhood cerebral form, Addison and Adrenomyeloneuropathy (AMN). While the incidence in the whole population is 1.3/100.000, the incidence in men is reported to be 1/20.000. In patients with asymptomatic ALD, improvement can be seen with the addition of Lorenzo's Oil, which contains the triglyceride forms (edible form) of oleic and erucic acid. Therefore, early diagnosis is crucial.

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