Pediatric X-linked adrenoleukodystrophy: phenotypes, variants, and HSCT outcomes - PubMed
4 hours ago
- #ABCD1 mutations
- #X-linked adrenoleukodystrophy
- #hematopoietic stem cell transplantation
- X-linked adrenoleukodystrophy (ALD) shows variable neurologic and adrenal symptoms; early diagnosis is key for effective hematopoietic stem cell transplantation (HSCT).
- The study reviewed 31 Chinese male children with ALD, finding 24 had cerebral ALD (cALD) and 7 had adrenal-only disease, with common symptoms including visual/hearing impairment, seizures, and cognitive decline.
- Genetic analysis identified 29 ABCD1 variants, including three novel pathogenic variants, expanding the mutation spectrum.
- HSCT in early-stage cALD patients with a Loes score < 9 showed a trend toward improved 5-year overall survival (78% vs. 29%), though statistical significance was limited by sample size.
- Diagnostic delays highlight the urgent need for newborn screening to identify patients early for timely HSCT intervention.