Syndrome de Hurler : diagnostic et prise en charge précoces

Leroux, Stéphanie; Müller, Jean-Baptiste; Boutaric, Emmanuelle; Busnel, A.; Lemouel, F.; Andro-Garçon, M.; Neven, Bénédicte; Valayannopoulos, Vassili; Vinceslas, C.

doi:10.1016/j.arcped.2014.02.013

Cited by 7 publications

(7 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…MPS I is a rare genetic disorder with an estimated incidence of 1 case per 100,000 live births [12], [13], [22], it's characterized by a wide spectrum of disease with variable age of onset, progression, and organ involvement [23]. Without treatment, patients with the most severe phenotype will be exposed to a progressive deterioration of the musculoskeletal, cardiorespiratory, and central nervous system and, in most cases, die before the age of 10 years [22], [24].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Azab

Dardas

Hamarsheh

et al. 2017

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-systemic disease with a broad range of severity and disease progression reported across affected individuals. The aim of this study was the detection and interpretation of IDUA mutation in a family with two children affected with lethal MPS I. The IDUA gene was sequenced in the parents of two deceased children who had a clinical diagnosis of MPS I, to assess their carrier status and to help inform on risk in future children. The sequencing analysis was performed by PCR and bidirectional Sanger sequencing of the coding region and exon-intron splice junctions at Labor MVZ Westmecklenburg molecular diagnostics laboratory. A heterozygous c.657delA variant in exon 6 was identified in each parent, which is the most likely explanation for disease in their children. This report represents the first Yemeni family to have a molecular diagnosis for MPS I.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Deficiency of the IDUA enzyme results partial degradation and lysosomal accumulation of its substrates [1], [11], which lead to progressive dysfunction of several organs [12], [13]. Currently more than hundred mutations in the IDUA gene have been reported (Human Gene Mutation Database, http://www.hgmd.org/) [14], [15].…”

Section: Introductionmentioning

confidence: 99%

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Azab

Dardas

Hamarsheh

et al. 2017

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

show abstract

“…In MPS I, the medical treatment (ERT as well as bone marrow transplant [BMT]) does not modifies the natural history of the skeletal deformities [12] , [13] . In MPS I, II or VI, apart when the treatment is administered in the very first weeks of life, ERT or BMT can improve the joint mobility through decreasing the infiltration of GAGs into ligaments, tendons, joint capsules, and other soft tissues; these treatments, however, never influence the outcome of bone morphology [14] , [15] , [16] . This poor evolution is due to the accumulation of GAGs which not only abrogates skeletal remodeling, but also causes disordered endochondral and intramembranous ossification which begins even during fetal development [13] .…”

Section: Discussionmentioning

confidence: 99%

“…Very early ERT has been described in other lysosomal storage disorders. For example, Leroux et al described the case of a patient with MPS type I (Hurler) with early Laronidase ERT (began 5.5 months of age) and bone marrow transplantation at 11 months, with good evolution, although follow-up was described only for 4 months [14] . Lampe et al reported the benefits of early ERT in a Hunter patient under 1 year of age, including somatic improvements, markedly decreased urinary GAG excretion, stabilized dysostosis multiplex, and minor joint stiffness [15] .…”

Section: Discussionmentioning

confidence: 99%

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

Cao¹,

Wiedemann²,

Quinaux³

et al. 2016

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months.Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study. Additionally, this young patient experienced many ERT-associated side effects, and as a result a specific corticosteroid protocol (1 mg/kg of betamethasone the day before and 1 h before the ERT infusion) was given to avoid adverse events. Under these treatments, the height of this patient increased during the first year of the ERT although no more height gain was observed thereafter for 18 months. However, despite of ERT, his bone deformities (including severe pectus carinatum) actually worsened and his medullar cervical spine compression showed no improvement (thus needed decompression surgery).Conclusion: early ERT treatment did not improve the bone outcome in this severe MPS IV A patient after the 30 months-long treatment. A longer term follow up is required to further assess the efficacy of ERT on both the motor and the respiratory function of the patient.

show abstract

“…Mucopolysaccharidosis (MPS) forms a group of inherited metabolic disorders caused by the specific deficiency of a hydrolase responsible for a step in the degradation of mucopolysaccharides or glycosaminoglycans (GAG) due to mutations in the genes that code for the enzymes involved in said degradation [1]; actually, four main GAGs are known: chondroitin sulfate, dermatan sulfate, heparan sulfate and keratin sulfate with variable localization in the body [2,3]; and its accumulation within the connective tissue results in a wide range and variety of clinical effects that depends specifically on the enzyme deficiency. [4] Thus, based on this enzyme deficiency, 7 different forms of MPS have been assigned: MPS I (Hurler's syndrome) [5] MPS II (Hunter's syndrome) [6] MPS III (Sanfilippo's syndrome) [7] MPS IV (Morquio syndrome) [8] MPS VI (Maroteaux-Lamy syndrome) [9], MPS VII (Sly disease) [10] and MPS IX (Natowicz syndrome) [11]; Each of these syndromes has a subtype and in total eleven enzymatic defects have been detected. All MPS are inherited as an autosomal recessive trait except Hunter syndrome (MPS II) which is a disease linked to the X chromosome [12].…”

Section: Introductionmentioning

confidence: 99%

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Giraldo

Terranova

Soto

2020

J. inborn errors metab. screen.

View full text Add to dashboard Cite

Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations. We realized a retrospective study of clinical and otorhinolaryngologic findings of 35 patients diagnosed with MPS type II, IV-A and VI of the Colombian southwest. As a result, we found that 64% of the patients evaluated had hearing loss, 11.3% had hypertrophy of the tonsils,17.10% short neck and macroglossia. Additionally, 47.8% of the patients presented otitis media. 20% received treatment with hearing aids. no patient reported otosclerosis or tinittus. In patients with different types of MPS, there is a high frequency and progressive tendency to suffer audiological losses and recurrent infections, so it is important an opportune diagnosis, permanent monitoring and adequate therapy to avoid the repercussion of the pathology in the quality of life of patients.

show abstract

Syndrome de Hurler : diagnostic et prise en charge précoces

Cited by 7 publications

References 19 publications

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Contact Info

Product

Resources

About