التفاصيل البيبلوغرافية
| العنوان: |
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation. |
| المؤلفون: |
Dubot, Patricia1,2 (AUTHOR) patricia.dubot@inserm.fr, Sabourdy, Frédérique1,2 (AUTHOR) sabourdy.f@chu-toulouse.fr, Plat, Geneviève3 (AUTHOR) plat.g@chu-toulouse.fr, Jubert, Charlotte4 (AUTHOR) charlotte.jubert@chu-bordeaux.fr, Cancès, Claude5 (AUTHOR) cances.c@chu-toulouse.fr, Broué, Pierre5 (AUTHOR) broue.p@chu-toulouse.fr, Touati, Guy5 (AUTHOR) touati.g@chu-toulouse.fr, Levade, Thierry1,2 (AUTHOR) thierry.levade@inserm.fr |
| المصدر: |
International Journal of Molecular Sciences. Nov2019, Vol. 20 Issue 21, p5345. 1p. |
| مصطلحات موضوعية: |
*HEMATOPOIETIC stem cell transplantation, *LYSOSOMAL storage diseases, *CELLULAR therapy, *ENZYMES, *GRAFT versus host disease |
| مستخلص: |
We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense β-glucuronidase (GUSB) variations in exon 3: two novel, c.422A>C and c.424C>T, inherited from his mother, and the rather common c.526C>T, inherited from his father. Expression of these variations in transfected HEK293T cells demonstrated that the double mutation c.422A>C;424C>T reduces β-glucuronidase enzyme activity. Enzyme replacement therapy (ERT), using UX003 (vestronidase alfa), was started at four months of age, followed by a hematopoietic stem cell allograft transplantation (HSCT) at 13 months of age. ERT was well tolerated and attenuated visceromegaly and skin infiltration. After a severe skin and gut graft-versus-host disease, ERT was stopped six months after HSCT. The last follow-up examination (at the age of four years) revealed a normal psychomotor development, stabilized growth curve, no hepatosplenomegaly, and no other organ involvement. Intriguingly, enzyme activity had normalized in leukocytes but remained low in plasma. This case report illustrates: (i) The need for an early diagnosis of MPS, and (ii) the possible benefit of a very early enzymatic and/or cellular therapy in this rare form of lysosomal storage disease. [ABSTRACT FROM AUTHOR] |
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