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MUCOPOLYSACCHARIDOSIS-MPS

MUCOPOLYSACCHARIDOSIS-MPS. Dr. NZIOKI CM CONSULTANT ENDOCRINOLOGIST MACHAKOS LEVEL 5 HOSPITAL. Outline. Introduction Mode of inheritance Classification Clinical presentation Diagnosis Management of MPS. INTRODUCTION.

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MUCOPOLYSACCHARIDOSIS-MPS

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  1. MUCOPOLYSACCHARIDOSIS-MPS Dr. NZIOKI CM CONSULTANT ENDOCRINOLOGIST MACHAKOS LEVEL 5 HOSPITAL

  2. Outline • Introduction • Mode of inheritance • Classification • Clinical presentation • Diagnosis • Management of MPS

  3. INTRODUCTION • Mucopolysaccharidosis (MPS) are hereditary progressive disorders caused by defective catabolism of sulfated components of connective tissue- glycosaminoglycans (GAG’s) • The major GAGs are:- • dermatan sulfate (DS) • heparan sulfate(HS) • keratan sulfate(KS) • Chondroitin -4- sulfate • Hyaluronan

  4. Introduction conti’ • Enzymes associated with GAG catabolism are lysosomal hydrolases • Patients with MPS have less than 1%residual enzyme activity • GAGs accumulate in lysosomes – this results in cellular dysfunction and clinical abnormality

  5. MPS Classification

  6. MPS Classification • Four broad categories based on dominant clinical features • Soft tissue storage and skeletal disease with or without brain disease (MPS I, II, VII) • Soft tissue and skeletal disease(MPS VI) • Primary skeletal disorders (MPS IVA , IVB) • Primary central nervous system disorders ( MPS III A-D)

  7. Clinical presentation • Many physical disorders • Varying degree of severity depending on MPS type • Features may not be apparent at birth but progress as storage of GAGs increase

  8. Common presentations • CNS disease – mental retardation , developmental delay , severe behavioral problems , hydrocephalus • CVS disease- Valvular dysfunction • Pulmonary disease- airway obstruction, sleep apnoea • Opthalmologic – corneal clouding • Hearing impairment – deafness • Musculoskeletal disease- short stature, joint stiffness • Others – coarse facial features , hepatosplenomegally , hernia

  9. Hurler , Hurler-Scheie, Scheie syndrome(MPS I) • Autosomal recessive mode of inheritance • Due to lysosomalα-L- Idoronidase deficiency • Newborns are normal at birth • Clinical features start manifesting by age 1 year

  10. Clinical features • Developmental delay • Coarse thick facial features • Low nasal bridge • Prominent dark eye brows • Progressive joint stiffness • Severe mental retardation

  11. Diagnosis • High index of suspicion- a child with coarse facial features, bone disease, developmental delay,short stature, hepatosplenomegally , corneal clouding • GAG urinary concentration • Lysosomal Enzyme assay – definitive diagnosis from cultured fibroblasts,leukocytes • Prenatal diagnosis in selected family clusters- amniocytes and chorionic villus culture

  12. Management of MPS • Goal- to reduce severity of symptoms and improve quality of life • Multidisciplinary team care • Neurologist • Pediatrician • Cardiologist • Ophthalmologist • Audiologist • Orthopedic surgeon • Physical and occupational therapist

  13. Management • Supportive care especially physical therapy is critical • Main treatment modalities are • Haematopoietic stem cell (peripheral blood leukocytes) transplant (HSCT) for MPS I and II. Has high risk of morbidity and mortality from cardiac and pulmonary complications. Reduces clinical progression of some features in some children • Enzyme replacement therapy (ERT)- MPS I, II, VI • Treatment results in improvement of somatic disease

  14. Thank you Asanteni

  15. Reference • Joseph Muenzer. Overview of the mucopolysaccharidosis, , Rheumatology, Vol 50, 2011 • Thomas J et al. Diagnosis of mucopolysaccharidosis, Rheumatology , Vol.50, 2011 • Lone Clark. Mucopolysaccharidosis type 1. Gene reviews 2016

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