Long term outcome ofMPI-CDGpatients on ...
Document type :
Article dans une revue scientifique: Article original
DOI :
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Title :
Long term outcome ofMPI-CDGpatients on D-mannose therapy
Author(s) :
Girard, M. [Auteur]
Douillard, Claire [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Debray, D. [Auteur]
Lacaille, F. [Auteur]
Schiff, M. [Auteur]
Vuillaumier-Barrot, S. [Auteur]
Dupre, T. [Auteur]
Fabre, M. [Auteur]
Damaj, L. [Auteur]
Kuster, A. [Auteur]
Torre, S. [Auteur]
Mention, Karine [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Mclin, V. [Auteur]
Dobbelaere, Dries [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Borgel, D. [Auteur]
Bauchard, E. [Auteur]
Seta, N. [Auteur]
Bruneel, A. [Auteur]
De Lonlay, P. [Auteur]
Douillard, Claire [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Debray, D. [Auteur]
Lacaille, F. [Auteur]
Schiff, M. [Auteur]
Vuillaumier-Barrot, S. [Auteur]
Dupre, T. [Auteur]
Fabre, M. [Auteur]
Damaj, L. [Auteur]
Kuster, A. [Auteur]
Torre, S. [Auteur]
Mention, Karine [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Mclin, V. [Auteur]
Dobbelaere, Dries [Auteur]

Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Borgel, D. [Auteur]
Bauchard, E. [Auteur]
Seta, N. [Auteur]
Bruneel, A. [Auteur]
De Lonlay, P. [Auteur]
Journal title :
The Journal of Inherited Metabolic Disease
Abbreviated title :
J. Inherit. Metab. Dis.
Volume number :
43
Pages :
1360-1369
Publication date :
2020-08-29
ISSN :
0141-8955
English keyword(s) :
coagulation
congenital disorder of glycosylation
congenital hepatic fibrosis
diarrhea
D-mannose
MPI-CDG
portal hypertension
congenital disorder of glycosylation
congenital hepatic fibrosis
diarrhea
D-mannose
MPI-CDG
portal hypertension
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with ...
Show more >Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D-mannose treatment. Nine patients were diagnosed with MPI-CDG at a median age of 3 months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2 years of age. Oral D-mannose was started in eight patients at a median age of 7 months (mean 38 months), with a median follow-up on treatment of 14 years 9 months (1.5-20 years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D-mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow-up. This study highlights (i) the efficacy and safety of D-mannose treatment with a median follow-up on treatment of almost 15 years (ii) the need for life-long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.Show less >
Show more >Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D-mannose treatment. Nine patients were diagnosed with MPI-CDG at a median age of 3 months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2 years of age. Oral D-mannose was started in eight patients at a median age of 7 months (mean 38 months), with a median follow-up on treatment of 14 years 9 months (1.5-20 years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D-mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow-up. This study highlights (i) the efficacy and safety of D-mannose treatment with a median follow-up on treatment of almost 15 years (ii) the need for life-long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
CHU Lille
CHU Lille
Collections :
Submission date :
2024-06-25T21:56:13Z
2024-10-22T12:46:08Z
2024-10-22T12:46:08Z