ADRENALOLEUKODISTROFIJA. (Bosnian)

ADRENOLEUKODYSTROPHY. (English)

Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. Case report: Patients S.A. 50 years old, in the third year of life was diagnosed with primary adrenal insufficiency. From the age of 45 he feels, headache, dizziness, bends to the right when walking, night incontinence of urine. Talking to himself, the last year goes to the cemetery every day, occasionally crying without control and remembrance. Condition with spinocerebellar ataxia and a left pyramidal defect with incontinence of urine and psychiatric problems required re-examination. In consultation with neurologist at the Department of Neurology, investigations have shown that patient is suffering from X-linked adrenoleukodystrophy with affected central and peripheral nervous system. Adrenoleukodystrophy (ALD) is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. it is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy). Conclusion: In our case hypocorticism was the first sign of X-linked adrenoleukodystrophy. In male patients with hypocorticism X-linked adrenoleukodystrophy should always be excluded as one of the possible causes of primary adrenal insufficiency. [ABSTRACT FROM AUTHOR]

Adrenaloleukodistrofija (ALD) predstavlja bolesti akumulacije masnih kiselina veoma dugih lanaca u tkivima po celom telu. Najteže pogođena tkiva su mijelin u centralnom nervnom sistemu, kora nadbubrežne žlezde i Leidig ćelije u testisima. Klinički, ALD je heteroehogeni poremećaj, predstavljajući se sa nekoliko različitih fenotipova, i ne postoji jasan obrazac genotip-fenotip korelacije. Prikaz slučaja: Pacijent A. A, star 50 godina, u trećoj godini života dijagnostikovan primarni hipokorticizam, od 45. godini života ima tegobe: malaksalost, glavobolje, vrtoglavice, zanošenje udesno, noćno umokravanje, povremena inkotinencija urina. Razgovara sam sa sobom, godinu dana svakodnevno boravi na groblju, povremeno viče nekontrolisano a da se kasnije toga ne seća. Stanje spinocerebelarne ataksije i diskretnog levostranog piramidalnog deficita sa inkontinencijom urina i psihijatrijskim problemima zahtevalo je dodatno ispitivanje. U saradnji sa Klinikom za neurologiju sprovedena dijagnostika. Rezultati ispitivanja su pokazali da pacijent boluje od X-zavisne adrenaloleukodistrofije sa zahvaćenošću centralnog i perifernog nervnog sistema. ALD genetski je poremećaj koji prenosi majka na sina. Posledica je mutacija u genu ABCD1 smještenom na X hromozomu, što dovodi do nedostatka ili disfunkcije transmembranskog proteina ALDP (prenosi VLCFacyl-CoA estrazu iz citosola u peroksidom i time učestvuje u beta oksidaciji). Metabolički poremećaj se karakteriše narušenom beta oksidacijom masnih kiselina veoma dugih lanaca (C>22), pri čemu se one nagomilavaju u plazmi i tkivima. Akumulacija masnih kiselina veoma dugačkog lanca deluje toksično jer: ima disruptivni efekat na strukturu, stabilnost i funkciju ćelijske membrane, smanjuje oslobađanje kortizola iz humanih adrenokortikalnih ćelija, destruiše astrocite i oligodendrocite, uzrokuje oksidativni stres i oštećuje proteine, aktivira mikrogliju i apoptozu. Narušava sposobnost oligodendrocita i Švanovih ćelija da zadrže aksonalni integritet, što rezultuje oštećenjem aksona. Zaključak: Kod našeg pacijenta hipokorticizam dijagnostikovan u ranoj životnoj dobi je bio prvi znak bolesti i rana manifestacija X-vezane adrenaloleukodistrofije. Kod pacijenta muškog pola sa hipokorticizmom treba razmotriti i adrenaloleukodistrofiju kao uzrok primarnog hipokorticizma. [ABSTRACT FROM AUTHOR]

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