Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
نویسندگان
چکیده
Ăvod: MukopolysacharidĂłza I. typu (MPS I) patĹĂ do skupiny lysosomĂĄlnĂch stĹĂĄdavĂ˝ch onemocnÄnĂ, jejichĹž pĹĂÄinou je dÄdiÄnĂĄ porucha enzymu katalyzujĂcĂho odbourĂĄvĂĄnĂ glykosaminoglykanĹŻ, kterĂŠ se hromadĂ v tkĂĄnĂch. OnemocnÄnĂ projevuje rĹŻznou tĂŞà a variabilitou klinickĂ˝ch pĹĂznakĹŻ, jeĹž Äase progredujĂ. Vzhledem k existenci cĂlenĂŠ lĂŠÄby, tj. enzymovĂŠ substituÄnĂ terapie transplantace hematopoetickĂ˝ch kmenovĂ˝ch bunÄk, zabraĹujĂcĂ rozvoji pĹĂznakĹŻ nebo vĂ˝znamnÄ zpomalujĂcĂ prĹŻbÄh klĂÄovĂŠ co nejÄasnÄjĹĄĂ diagnostikovĂĄnĂ nemoci. Metoda: Prezentujeme kazuistiku dĂvky s MPS I (fenotypem m. Hurler-Scheie) bez typickĂ˝ch "hrubĂ˝ch rysĹŻ" obliÄeji, ale dalĹĄĂm charakteristickĂ˝m pĹĂznakem kontraktur obrazu "drĂĄpovitĂ˝ch rukou", rozvinuly jiĹž na zaÄĂĄtku druhĂŠho roku Ĺživota vyĹžadovaly operaÄnĂ ĹeĹĄenĂ. DĂĄle byla pĹĂtomnĂĄ splenomegalie novÄ rozvinutĂĄ pupeÄnĂ kĂ˝la. VĂ˝sledky: DiagnĂłza stanovena aĹž ve vÄku ÄtyĹ let zĂĄkladÄ kombinace biochemickĂ˝ch enzymologickĂ˝ch vyĹĄetĹenĂ nĂĄslednou konfirmacĂ molekulĂĄrnÄgenetickĂŠ Ăşrovni prĹŻkazem patogennĂch mutacĂ genu IDUA. Byla ihned zahĂĄjena enzymovĂĄ laronidĂĄzou pro riziko dalĹĄĂ progrese rozvoje neurologickĂŠ symptomatologie nĂĄslednÄ indikovĂĄna transplantaci bunÄk. ZĂĄvÄr: U pacienta vĹždy nemusĂ prezentovat charakteristickĂĄ kraniofaciĂĄlnĂ dysmorfie, jsou popisovĂĄny symptomy, organomegalie, syndrom karpĂĄlnĂho tunelu a/nebo kontraktury rukou. dostupnosti laboratornĂ diagnostiky lĂŠÄby pacienty zkrĂĄcenĂ doby mezi prvnĂmi pĹĂznaky onemocnÄnĂ diagnĂłzou minimum, protoĹže kaĹždou prodlevou stav nenĂĄvratnÄ h orĹĄĂ lĂŠÄba dosahuje uspokojivĂ˝ch vĂ˝sledkĹŻ, pouze pokud vÄas.
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چکیده ندارد.
15 صفحه اولEffects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a progressive disorder caused by deficiency of α-L-iduronidase (IDUA), which leads to storage of heparan and dermatan sulphate. It is suggested that early enzyme replacement therapy (ERT) leads to better outcomes, although many patients are diagnosed late and don't receive immediate treatment. This study aims to evaluate the effects of late onset ERT in a...
متن کاملHurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
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Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes ...
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Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
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ژورنال
عنوان ژورنال: Ceskoslovenska? pediatrie
سال: 2023
ISSN: ['0069-2328']
DOI: https://doi.org/10.55095/cspediatrie2023/020