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Bone Marrow Transplantation in Hurler syndrome

Transplanted tissue. Bone MarrowImmature cells - stem cellsWhite blood cellsRed blood cellsPlateletsPeripheral blood stem cellsUmbilical cord stem cells. Tissue typing or matching. Human leukocyte-associated antigens (HLA)25% chance of sibling match30-40% chance HLA matched sib or pare

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Bone Marrow Transplantation in Hurler syndrome

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    1. Bone Marrow Transplantation in Hurler syndrome

    2. Transplanted tissue Bone Marrow Immature cells - stem cells White blood cells Red blood cells Platelets Peripheral blood stem cells Umbilical cord stem cells

    3. Tissue typing or matching Human leukocyte-associated antigens (HLA) 25% chance of sibling match 30-40% chance HLA matched sib or parent Unrelated donors - 6 HLA and minor antigens

    4. Bone Marrow Harvest Under anaesthesia Large needle into pelvis > sternum Blood and bone removed from sample Cryopreservation Donor side effects Local tenderness few days to 3-4 wks full recovery

    5. Peripheral Stem Cell Harvest Stem cells stimulated by Granulocyte colony stimulating factor, G-CSF Blood removed via large vein Machine separates the stem cells Blood minus stem cells is returned via a second canula Cryopreservation

    6. Cord Blood Collection Usually compatability known from prenatal testing Blood collected from cord after cord cut. Stem cells separated in laboratory Cryopreservation (3/16 chance sib matching & unaffected; 1/16 matching and not affected or carrier)

    7. Daria and her donor, Caleb

    8. The transplant Conditioning: patient’s own marrow obliterated with chemotherapy Marrow or Stem cell Infusion: donor cells infused via vein Engraftment - donor cells enter marrow and start dividing ; 10-21 days Close medical supervision: 3 months Long term follow-up

    9. Jack after insertion of portocath

    10. Infusion of Marrow

    11. Complications of BMT Death Side effects of chemotherapeutic drugs (Nausea, vomiting, fatigue, loss of appetite, mouth ulcers, hair loss and skin reaction) Infections (viral, bacterial and fungal) Bleeding

    12. Jack during Conditioning

    13. Complications of BMT Graft rejection Acute graft versus host disease, GVHD (Skin rash; liver disease; gastrointestinal disturbance; fever; oedema) Chronic GVHD: (skin, liver, eyes, mouth, lungs, gastrointestinal system, nervous system

    14. Hair like my Dad

    15. Complications of BMT Veno-occlusive disease: blocking veins draining liver Lung complications: infection, GVHD, drugs, fluid Mucositis: ulceration mouth and gut Transfusions: red cells and platelets (donor’s blood group).

    16. Jack’s Isolation Room

    17. Complications of BMT Seizures / convulsions: haemorrhage, clot, high blood pressure, infection, drugs Haemorrhagic cystitis: drugs or infection Hypertension: drugs Dental problems: infection, loss of enamel

    18. Jack and his support team

    19. Late Complications of BMT Endocrine of hormone dysfunction - growth, puberty, energy Infertility Lung complications: fibrosis Eye disease: cataract & dry eyes Kidney dysfunction Secondary malignancy

    20. Benefits of BMT for MPS 1H Maintenance of IQ Correction of hydrocephalus Improved hearing Normalised heart function Normalisation size of liver and spleen Survival

    21. Jaime post BMT

    22. Persisting problems after BMT for MPS 1H Skeletal changes Only partial correction corneal clouding Progression of retinal disease Heart valve changes Carpal tunnel syndrome

    23. Jaime 11yrs post BMT

    24. BMT - Mechanisms Bone marrow cells produce the microglial cells of the CNS Enzyme transfer between cells (spleen, liver, lung, skin ) Release of enzyme into plasma - then taken up by host cell (won’t cross BBB) Concentration gradient storage product

    25. Determinants of Survival & GVHD Matched sibling>matched related> matched unrelated donor Regime of irradiation and chemotherapy used

    26. Determinants of Neuropsychological Outcome Age < 24 months IQ > 70 Donor not a carrier > donor a carrier ? Severity of GVHD

    27. Psychosocial Aspects Limited time to decide whether or not to have BMT Decision period while still coming to terms with diagnosis High risk of losing child in their best years Disruption to family Outcome data lags changes in regimes

    28. Daria pre BMT

    29. The Future BMT + ERT Continually improving regimes

    30. Jaime 11 yrs post BMT

    33. Animal studies - BMT MPS-IH (Hurler) Dog, cat and mouse enzyme activity CSF 7-15% donor Histol normal liver, kidney, brain glial cells, no peripheral cell vacuolation variable decrease neuronal vacuolation marked vacuolation chondrocytes

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