Rare Diseases Symptoms Automatic Extraction

[Hematopoietic cell transplantation in X-linked adrenoleukodystrophy].

[adrenomyeloneuropathy]

X-linked adrenoluekodystrophy (X-ALD) is a clinically heterogenous disorder ranging from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy in adults, and some persons with ALD protein (ALDP) defects may remain asymptomatic for life. Hematopoietic cell transplantation (HCT) is currently the only effective therapy for cerebral X-ALD. Stem cell sources for transplantation are bone marrow, peripheral blood and cord blood. The donor should be HLA identical with the recipient and can be found within family members or from unrelated bone marrow or cord blood donor pools. Preparative conditioning with supralethal chemoradiotherapy is needed for donor cell engraftment, and immunosuppressive agents are given for months as prophylaxis against graft-verus-host disease (GVHD). Worldwide data collection reported 56% of long term survival. Neurologic and MRI severity at the time of transplantation was the most important factor for survival and the degree of improvement after transplantation. More than 90% of early stage patients have survived with good quality of life for a long term, whereas patients with advanced disease had the higher mortality rate during transplant procedures and the neurological abnormalities progressed in most of them. Patients with a parietal-occipital lobe pattern of demyelination demonstrated a greater mean loss of performance IQ (PIQ) points than patients with a frontal lobe pattern of demyelination. Thus, boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies.

Diseases presenting "factor for survival" symptom

  • adrenomyeloneuropathy
  • congenital diaphragmatic hernia

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