Long term outcome of MPI-CDG patients on D-mannose therapy.
Administration, Oral
Child
Child, Preschool
Congenital Disorders of Glycosylation
/ drug therapy
Female
Humans
Hypertension
/ etiology
Infant
Liver Cirrhosis
/ pathology
Male
Mannose
/ administration & dosage
Mannose-6-Phosphate Isomerase
/ deficiency
Medication Adherence
Retrospective Studies
Transferrin
/ analysis
Treatment Outcome
Venous Thrombosis
/ etiology
D-mannose
MPI-CDG
coagulation
congenital disorder of glycosylation
congenital hepatic fibrosis
diarrhea
portal hypertension
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
26
04
2020
revised:
27
06
2020
accepted:
15
07
2020
pubmed:
25
10
2020
medline:
8
10
2021
entrez:
24
10
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Transferrin
0
Mannose-6-Phosphate Isomerase
EC 5.3.1.8
Mannose
PHA4727WTP
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1360-1369Informations de copyright
© 2020 SSIEM.
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