Transplantácia pupočníkovej krvi u 4-ročného chlapca s adrenoleukodystrofiou viazanou na chromozóm X

Transplantation of Umbilical Blood in a 4-year Boy with Adrenoleukodystrophy Bound to Chromosome X

The authors describe the family, whose two sons were proved to suffer from children cerebral form of adrenoleukodystrophy bound to chromosome X. In the first-born son the diagnosis was established only after the development of neurological symptoms, in the second son s early as before the evolution of clinical picture of the disease on the basis of familial anamnesis. In the metabolic examination, high levels of very long-chain fatty acids with were detected in serum. The genetic analysis confirmed the same mutation of ALD gene in both sons as well as in their mother –⁠ a healthy carrier. At the beginning of the third pregnancy prenatal diagnosis was made in the mother. The biopsy of chorion villi enabled to confirm a conceptus of female sex without carriership of the disease-related gene. After a physiological delivery of healthy daughter the umbilical blood with sufficient amount of stem hematopoietic cells with confirmed antigens of Ist and Ind class of the HLA system with the younger son was established. At the age of four years the HLA-identical sibling transplantation of umbilical blood was made in the younger son. The transplantation was indicated before the development of neurological symptoms after the detection of leukodystrophic foci on MRI of the brain (Loes score 4).

Key words:
adrenoleukodystrophy bound to chromosome X, diagnostics, therapy, transplantation of hematopoietic cells