Published in:
Open Access
01-11-2013 | Meeting abstract
PW03-021 - HSCT in mevalonate kinase deficiency
Authors:
B Wolska-Kuśnierz, B Mikołuć, R Motkowski, K Kałwak, E Bernatowska, D Rowczenio
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Mevalonate kinase deficiency (MKD) has a wide spectrum and severity of clinical manifestation. Patients with mutations in MVK gene leading to complete lack of the enzyme, suffer from the most severe form of disease, also known as mevalonic acydosis, whereas defects with preserved, but insufficient enzyme activity present with autoinflammatory syndrome , also known as hiperIgD syndrome (HIDS). Both diagnosis and treatment of MKD is a great challenge for clinicians. Hematopoietic stem cell transplantation (HSCT) is the only available therapy that allows delivery to the tissues of the missing enzyme produced by healthy donor hematopoietic cells. …
