Haploidentical α/ß T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Rheumatology (Oxford)
; 60(10): 4850-4854, 2021 10 02.
Article
em En
| MEDLINE
| ID: mdl-33410495
ABSTRACT
OBJECTIVE:
Mevalonic aciduria represents the most severe form of mevalonate kinase deficiency (MKD). Patients with mevalonic aciduria have an incomplete response even to high doses of anti-cytokine drugs such as anakinra or canakinumab and stem cell transplantation (SCT) represents a possible therapy for this severe disease.METHODS:
We report the first two children affected by severe MKD who received haploidentical α/ß T-cell and B-cell depleted SCT. Both patients received a treosulfan-based conditioning regimen and one received a second haploidentical-SCT for secondary rejection of the first.RESULTS:
Both patients obtained a stable full donor engraftment with a complete regression of clinical and biochemical inflammatory signs, without acute organ toxicity or acute and chronic GvHD. In both, the urinary excretion of mevalonic acid remained high post-transplant in the absence of any inflammatory signs.CONCLUSION:
Haploidentical α/ß T-cell and B-cell depleted SCT represents a potential curative strategy in patients affected by MKD. The persistence of urinary excretion of mevalonic acid after SCT, probably related to the ubiquitous expression of MVK enzyme, suggests that these patients should be carefully monitored after SCT to exclude MKD clinical recurrence. Prophylaxis with anakinra in the acute phase after transplant could represent a safe and effective approach. Further biological studies are required to clarify the pathophysiology of inflammatory attacks in MKD in order to better define the therapeutic role of SCT.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transplante de Células-Tronco
/
Deficiência de Mevalonato Quinase
/
Transplante Haploidêntico
Limite:
Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Rheumatology (Oxford)
Assunto da revista:
REUMATOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article