2022, Cilt 9, Sayı 1, Sayfa(lar) 074-081
A Rare Disease: X-Linked Childhood Cerebral Adrenoleukodystrophy and Nursing Care
Güzide ÖZDEN AKCAN1, Rabiye GÜNEY2
1Yüksek lisans öğrencisi, Sağlık Bilimleri Üniversitesi, Hamidiye Sağlık Bilimleri Enstitüsü, İstanbul, Türkiye
2Dr. Öğr. Üyesi, Sağlık Bilimleri Üniversitesi, Hamidiye Hemşirelik Fakültesi, İstanbul, Türkiye
Keywords: Disease, heredity, nursing, stem cell, X chromosome

The cerebral childhood form of X-linked Adrenoleukodystrophy is a rare peroxisomal disease with progressive neurodegenerative symptoms affecting the brain's white matter and the adrenal cortex. This disease, which is not seen before the age of 2.5, begins to show its initial symptoms between 4-10 when demyelination peaks. Initially, nonspecific symptoms make diagnosis difficult. Definitive diagnosis is made by determining the mutation in the ABCD1 gene by molecular genetic testing. It is a disease that can be treated with hematopoietic stem cell transplantation in patients without severe neurological dysfunction. Alternative nutrition strategies, primarily Lorenzo's oil, have been developed to slow the progression of neurological degeneration. Quality care provided to these patients who need full-time nursing care can significantly improve their quality of life.