RT Journal Article
SR Electronic
T1 Clinical course of sly syndrome (mucopolysaccharidosis type VII)
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 403
OP 418
DO 10.1136/jmedgenet-2015-103322
VO 53
IS 6
A1 Adriana M Montaño
A1 Ngu Lock-Hock
A1 Robert D Steiner
A1 Brett H Graham
A1 Marina Szlago
A1 Robert Greenstein
A1 Mercedes Pineda
A1 Antonio Gonzalez-Meneses
A1 Mahmut Çoker
A1 Dennis Bartholomew
A1 Mark S Sands
A1 Raymond Wang
A1 Roberto Giugliani
A1 Alfons Macaya
A1 Gregory Pastores
A1 Anastasia K Ketko
A1 Fatih Ezgü
A1 Akemi Tanaka
A1 Laila Arash
A1 Michael Beck
A1 Rena E Falk
A1 Kaustuv Bhattacharya
A1 José Franco
A1 Klane K White
A1 Grant A Mitchell
A1 Loreta Cimbalistiene
A1 Max Holtz
A1 William S Sly
YR 2016
UL http://jmg.bmj.com/content/53/6/403.abstract
AB Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data.Methods We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease.Results We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS.Conclusions MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.