[Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI].
BACKGROUND
Gaucher disease (GD) is the most common lysosomal storage disorder. It can be successfully treated with infusion of the modified deficient enzyme.


OBJECTIVE
Visceral and skeletal changes during enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease (GD) were studied by radiological methods.


METHODS
Eight patient with GD (8-39 years) were examined, who underwent ERT for 1-8 years (30-80 IU/bwkg/months Ceredase or Cerezyme). MRI from the upper abdomen were made before ERT was started and once a year during ERT, that allowed measurement of hepatic and splenic volume. The bone changes were depicted by MRI and conventional X-ray images. Bone marrow infiltration was estimated by MRI scans of femora with semiquantitative method.


RESULTS
Hepato- and splenomegaly were detected before ERT, which decreased in each patient during therapy. Decrease of liver volume was more expressed in patients with splenectomy. The infiltration of the bone marrow with Gaucher cells has reduced during treatment in six cases. Decreases of hepatosplenomegaly occured earlier and faster, than the improvement of bone disorders. Two splenectomised patients exhibited 4 episodes of bone crisis diagnosed by MRI. Their symptoms regrediated on increased enzyme doses. The grade of bone marrow infiltration and concurrent bone complications could not be detected by conventional X-ray films.


CONCLUSIONS
We conclude that the use of ERT in all patients leads to marked improvements in visceral and skeletal pathology of patients with Gaucher disease. The volume of the liver and the spleen, and the extension of bone marrow infiltration can be measured precisely by MRI, so it can be the method of choice in the diagnosis and in the monitoring of response to ERT. MRI helps to determine the appropriate enzyme dosage and to establish the necessity of elevation the enzyme dose. MRI can be practicable in the differential diagnosis of bone crisis and osteomyelitis.
Tóth
Judit
J
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Altalános Orvostudományi Kar, Radiológiai Klinika.
Szücs
Farkas Zsolt
FZ
Benkö
Klára
K
Maródi
László
L
D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000201:enzymology / Q000473:pathology*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology / Q000473:pathology*; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000172:deficiency; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D013154:Spleen / Q000201:enzymology / Q000473:pathology*; D016896:Treatment Outcome
D005962:Glucosylceramidase