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• W2042552004 abstract "On April 8, 1980, a 9-month-old boy received the first bone marrow transplant for Hurler syndrome (mucopolysaccharidosis, type I).1Hobbs J Hugh-Jones K Barrett A Byrom N Chambers D Henry K et al.Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation.Lancet. 1981; 2: 709-712Abstract PubMed Scopus (395) Google Scholar Today, fully engrafted with his mother’s marrow, he uses a computer as a self-reliant employee. Despite genotype analysis revealing homozygous W402X mutations that are indicative of a severe Hurler phenotype, he has stable intelligence in the low normal range.2Vellodi A Young E Cooper A Wraith JE Winchester B Meaney C et al.Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres.Arch Dis Child. 1997; 76: 92-99Crossref PubMed Scopus (170) Google Scholar In this issue of The Journal, Guffon et al.3Guffon N Souillet G Maire I Straczek J Guibaud P Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.J Pediatr. 1998; 133: 119-125Abstract Full Text Full Text PDF PubMed Scopus (117) Google Scholar join other transplant centers in reporting very good results for BMT in selected patients with Hurler syndrome who have severe phenotypes.2Vellodi A Young E Cooper A Wraith JE Winchester B Meaney C et al.Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres.Arch Dis Child. 1997; 76: 92-99Crossref PubMed Scopus (170) Google Scholar, 4Whitley C Krivit W Ramsay N Kersey J Chang P Latchaw K et al.Mutation analysis and clinical outcome of patients with Hurler syndrome (mucopolysaccharidosis type I-H) undergoing bone marrow transplantation [abstract].Am J Hum Genet. 1993; 53: 101Google Scholar, 5Whitley C Belani K Chang P-N Summers CG Blazar BR Tsai MY et al.Long-term outcome of Hurler syndrome following bone marrow transplantation.Am J Med Genet. 1993; 46: 209-218Crossref PubMed Scopus (173) Google Scholar, 6Hoogerbrugge P Brouwer O Bordigoni P Ringden O Kapaun P Ortega JJ et al.Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation.Lancet. 1995; 345: 1398-1402Abstract Full Text PDF PubMed Scopus (236) Google Scholar, 7Peters C Balthazor M Shapiro EG King RJ Kollman C Hegland JD et al.Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.Blood. 1996; 87: 4894-4902PubMed Google Scholar, 8Peters C Shapiro E Anderson J et al.Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children.Blood. 1998; 91: 2601-2608PubMed Google Scholar Identifications of mutant alleles in Hurler syndrome have been published.9Scott H Litjens T Hopwood J Morris C A common mutation for mucopolysaccharidosis Type I associated with a severe Hurler syndrome phenotype.Hum Mut. 1992; 1: 103-108Crossref PubMed Scopus (67) Google Scholar, 10Scott H Litjens T Nelson P Brooks D Hopwood J Morris C Alpha-L-iduronidase mutations (Q70X and P533X) associate with a severe Hurler phenotype.Hum Mut. 1992; 1: 333-339Crossref PubMed Scopus (76) Google Scholar, 11Moskowitz S Tieu P Neufeld E A deletion/insertion mutation in the DUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).Hum Mut. 1993; 2: 71-73Crossref PubMed Scopus (22) Google Scholar, 12Bach G Moskowitz S Tieu P Matynia A Neufeld E Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the DUA gene in a small geographic area.Am J Hum Genet. 1993; 53: 330-338PubMed Google Scholar, 13Scott HS Litjens T Nelson PV Thompson PR Brooks DA Hopwood JJ et al.Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Am J Hum Genet. 1993; 53: 973-986PubMed Google Scholar, 14Bunge S Kleijer WJ Steglich C Beck M Zuther C Morris CP et al.Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.Human Mol Genet. 1994; 3: 861-866Crossref PubMed Scopus (97) Google Scholar Mutation analysis in these and other patients has demonstrated that preservation of intellectual function “is due to the BMT itself and not to inadvertent selection of patients with a milder form of the disease.”15Neufeld E Muenzer J The mucopolysaccharidoses.in: The metabolic and molecular bases of inherited disease. Vol 2. : McGraw-Hill, New York1995: 2485Google Scholar There are additional reports regarding the biochemical ramifications of various α-L-iduronidase mutations.13Scott HS Litjens T Nelson PV Thompson PR Brooks DA Hopwood JJ et al.Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Am J Hum Genet. 1993; 53: 973-986PubMed Google Scholar, 14Bunge S Kleijer WJ Steglich C Beck M Zuther C Morris CP et al.Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.Human Mol Genet. 1994; 3: 861-866Crossref PubMed Scopus (97) Google Scholar In the first 2 years of life, clinical diagnosis and enzyme determination of children with the severe phenotype correlates well with specific genotypes. Conversely, when disease presentation occurs beyond 2 years of life, the correlation between phenotype and genotype is considerably weaker. For example, Guffon et al.3Guffon N Souillet G Maire I Straczek J Guibaud P Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.J Pediatr. 1998; 133: 119-125Abstract Full Text Full Text PDF PubMed Scopus (117) Google Scholar noted that the P533R/P533R genotype may be associated with an intermediate (patient 9) or a mild (patient 4) form of Hurler syndrome or a severe form; a 7-year-old patient of ours was ineligible for transplant because of severe neuropsychologic retardation. There are similar observations that “prediction of the effects of some mutations may not be simple.”13Scott HS Litjens T Nelson PV Thompson PR Brooks DA Hopwood JJ et al.Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Am J Hum Genet. 1993; 53: 973-986PubMed Google Scholar Once a diagnosis has been made, the process of performing BMT in patients with Hurler syndrome begins with the identification of a suitable donor of hematopoietic stem cells. Issues include not only HLA typing and matching but also donor enzyme level. Ultimate neuropsychologic function is significantly lower when the donor is a carrier or the recipient’s engraftment is less than complete from a homozygous enzymatically normal donor.8Peters C Shapiro E Anderson J et al.Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children.Blood. 1998; 91: 2601-2608PubMed Google Scholar It is interesting that the initial patient with Hurler syndrome who underwent transplantation received marrow from his obligate carrier (i.e., enzymatic heterozygote) mother. See related article, p. 119. The preparation for the transplant must be sufficiently immunosuppressive and myeloablative to give the highest likelihood of donor cell engraftment with the lowest chance of rejection. Once again, the initial patient with Hurler syndrome underwent two marrow transplants, first with the father and then with the mother used as a donor.1Hobbs J Hugh-Jones K Barrett A Byrom N Chambers D Henry K et al.Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation.Lancet. 1981; 2: 709-712Abstract PubMed Scopus (395) Google Scholar Failure to achieve stable engraftment in patients with Hurler syndrome has been a major obstacle after both related and unrelated donor BMT.7Peters C Balthazor M Shapiro EG King RJ Kollman C Hegland JD et al.Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.Blood. 1996; 87: 4894-4902PubMed Google Scholar, 8Peters C Shapiro E Anderson J et al.Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children.Blood. 1998; 91: 2601-2608PubMed Google Scholar A consensus regarding optimal myeloablative and immunosuppressive preparation for BMT in Hurler syndrome awaits future study as suggested by Guffon et al.3Guffon N Souillet G Maire I Straczek J Guibaud P Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.J Pediatr. 1998; 133: 119-125Abstract Full Text Full Text PDF PubMed Scopus (117) Google Scholar and other investigators.7Peters C Balthazor M Shapiro EG King RJ Kollman C Hegland JD et al.Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.Blood. 1996; 87: 4894-4902PubMed Google Scholar, 8Peters C Shapiro E Anderson J et al.Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children.Blood. 1998; 91: 2601-2608PubMed Google Scholar In addition, toxicity to fragile organ systems such as the brain, lungs, and heart must be minimized. Engraftment after BMT in patients with Hurler syndrome leads to reduction of substrate in liver, tonsils, conjunctiva, cerebrospinal fluid, and urine.1Hobbs J Hugh-Jones K Barrett A Byrom N Chambers D Henry K et al.Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation.Lancet. 1981; 2: 709-712Abstract PubMed Scopus (395) Google Scholar, 16Resnick JM Krivit W Snover DC Kersey JH Ramsay NKC Blazar BR et al.Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation.Bone Marrow Transplant. 1992; 10: 273-280PubMed Google Scholar, 17Resnick JM Whitley CB Leonard AS Krivit W Snover DC Light and electron microscopic features of the liver in mucopolysaccharidosis.Hum Pathol. 1994; 25: 276-286Abstract Full Text PDF PubMed Scopus (35) Google Scholar, 18Belani KG Krivit W Carpenter BLM Braunlin E Buckley JJ Liao J-C et al.Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings.J Pediatr Surg. 1993; 28: 403-410Abstract Full Text PDF PubMed Scopus (106) Google Scholar, 19Summers CG Purple RL Krivit W Pineda R Copland GT Ramsay NKC et al.Ocular changes in the mucopolysaccharidoses after bone marrow transplantation.Ophthalmology. 1989; 96: 977-985Abstract Full Text PDF PubMed Scopus (54) Google Scholar Magnetic resonance imaging and computed axial tomography demonstrate improvements in Virchow-Robin space abnormalities and prevention of hydrocephalus.5Whitley C Belani K Chang P-N Summers CG Blazar BR Tsai MY et al.Long-term outcome of Hurler syndrome following bone marrow transplantation.Am J Med Genet. 1993; 46: 209-218Crossref PubMed Scopus (173) Google Scholar, 20Krivit W Sung JH Lockman LA Shapiro EG Bone marrow transplantation for treatment of lysosomal and peroxisomal storage diseases: focus on central nervous system reconstitution.in: Principles of clinical immunology. Vol 2. : Mosby, St. Louis (MO)1995: 1852-1864Google Scholar Hearing has normalized in many patients who have undergone transplantation in contrast to the natural progressive loss of hearing in patients who have not undergone transplantation.21Krivit W Lockman LA Watkins PA Hirsch J Shapiro EG The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome.J Inher Metab Dis. 1995; 18: 398-412Crossref PubMed Scopus (135) Google Scholar Not only are heart failure and tachyarrhythmias eliminated 1 year after successful BMT, but also myocardial muscle function as measured by echocardiography is stabilized or improved.22Braunlin EA Hunter DW Krivit W Burke B Hesslein PS Porter PT et al.Evaluation of coronary artery disease in the Hurler syndrome.Am J Cardiol. 1992; 62: 1487-1489Abstract Full Text PDF Scopus (30) Google Scholar, 23duCret RP Weinberg EJ Jackson CA Braunlin EA Boudreau RJ Kuni CC et al.Resting T1-201 scintigraphy in the evaluation of coronary artery disease in children with Hurler syndrome.Clin Nucl Med. 1994; 19: 975-978Crossref PubMed Scopus (12) Google Scholar However, despite engraftment, valvular deformities persist and often progress. Survival of patients with Hurler syndrome who undergo engraftment is radically changed from that of patients who do not undergo transplantation.24Krivit W Henslee-Downey J Klemperer M Cowan M Peters C Sanders J et al.Survival in Hurler’s disease following bone marrow transplantation in 84 patients.Bone Marrow Transplant. 1995; 15: S182-S185Google Scholar Long-term survival data indicate that the life span will be extended many decades. This remarkable improvement is directly attributable to persistence of leukocyte α-L-iduronidase enzyme activity. Permanent enzyme expression is due to adoptive transfer of the donor hematopoietic system, which includes a new monocyte-phagocyte system leading to replacement of Kupffer cells in liver, alveolar macrophages in lung, and lymphoid tissue. Correction of lysosomal engorgement follows endocytosis of enzyme into hepatocytes.16Resnick JM Krivit W Snover DC Kersey JH Ramsay NKC Blazar BR et al.Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation.Bone Marrow Transplant. 1992; 10: 273-280PubMed Google Scholar, 17Resnick JM Whitley CB Leonard AS Krivit W Snover DC Light and electron microscopic features of the liver in mucopolysaccharidosis.Hum Pathol. 1994; 25: 276-286Abstract Full Text PDF PubMed Scopus (35) Google Scholar In a similar fashion, the microglia of the central nervous system are part of this new influx of enzyme-replete donor cells.25Unger E Sung J Manivel J Chenggis M Blazar B Krivit W Male donor-derived cells in the brains of female sex-mismatched bone marrow transplant recipients: a Y-chromosome specific in situ hybridization study.J Neuropathol Exp Neurol. 1993; 52: 460-470Crossref PubMed Scopus (162) Google Scholar, 26Krivit W Sung J Lockman L Shapiro E Central nervous system reconstitution after bone marrow transplantation for lysosomal and peroxisomal storage diseases.in: Principles of clinical immunology. Vol 2. : Mosby, St. Louis (MO)1995: 1852Google Scholar Central nervous system disease is abated as new enzyme both corrects and prevents accumulation of glycosaminoglycan.26Krivit W Sung J Lockman L Shapiro E Central nervous system reconstitution after bone marrow transplantation for lysosomal and peroxisomal storage diseases.in: Principles of clinical immunology. Vol 2. : Mosby, St. Louis (MO)1995: 1852Google Scholar Odontoid hypoplasia is corrected by 8 to 10 years of age after transplants are successfully engrafted (S. Hite, unpublished observations). This is important because odontoid hypoplasia can be associated with C1-C2 vertebral displacement and consequent paraplegia. Guffon et al.3Guffon N Souillet G Maire I Straczek J Guibaud P Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.J Pediatr. 1998; 133: 119-125Abstract Full Text Full Text PDF PubMed Scopus (117) Google Scholar present excellent data on quantitative excretion of urinary glycosaminoglycans. This physiologic measurement correlates with phenotype. Patients with urinary glycosaminoglycan levels more than 100 mg of glucuronic acid/gm of creatinine had a severe phenotype and genotype (patients 1, 2, 3, 8, 12, and 13). A less severe form, characterized by urinary glycosaminoglycan levels less than 100 mg of glucuronic acid/gm of creatinine, would include patients 5, 6, and 10. The significance of these easily and accurately measurable physiologic parameters should be assessed in future studies. There are ample choices of donors for patients with Hurler syndrome other than HLA-identical siblings. These include unrelated donors of bone marrow coordinated by The National Marrow Donor Program or other registries and unrelated umbilical cord blood from numerous banks throughout the world. The mortality and morbidity rates from unrelated donor transplants have been decreasing.7Peters C Balthazor M Shapiro EG King RJ Kollman C Hegland JD et al.Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome.Blood. 1996; 87: 4894-4902PubMed Google Scholar T-lymphocyte depletion techniques and preparative regimens have greatly reduced the risks so that they begin to approach those of an HLA-identical sibling donor transplant. Orthopedic problems persist in these patients. Currently, despite complete hematopoietic stem cell engraftment, orthopedic surgery will be required for carpal tunnel syndrome, trigger digits, genu valgum, acetabular dysplasia, and kyphoscoliosis.27Field RE Buchanan JAF Copplemans MGJ Aichroth PM Bone marrow transplantation in Hurler syndrome. Effect on skeletal development.J Bone Joint Surg Br. 1994; 76B: 975-981Google Scholar, 28Van Heest A House J Krivit W Walker K Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage diseases.J Hand Surg. 1998; 23A: 236-243Abstract Full Text PDF Scopus (107) Google Scholar We are optimistic that the transplantation of mesenchymal stem cells could decrease the need for such orthopedic interventions.29Prockop D Marrow stromal cells as stem cells for nonhematopoietic tissues.Science. 1997; 276: 71-74Crossref PubMed Scopus (4154) Google Scholar These mesenchymal stem cells provide progenitors for osteoblasts and chondrocytes that are not supplied by hematopoietic stem cells. Whereas osteoblasts and chondrocytes are derived from donor marrow after filtering, the mesenchymal stem cells are derived from the adherent cell population after culturing in plastic Petri dishes. Further study of factors and procedures that lead to a better quality of life for patients with Hurler syndrome is required. The outcomes of quality-of-life assessments with various methods (from the perspective of the parent, child, or physician) may differ.30Testa MA Simonson DC Assessment of quality-of-life outcomes.N Engl J Med. 1996; 334: 835-840Crossref PubMed Scopus (1907) Google Scholar Quality of life with respect to health outcomes in patients with long-term Hurler syndrome who undergo engraftment ranges from restricted to near normal from the physician’s point of view. Although we believe that improved quality of life after BMT will occur as a result of earlier diagnosis and transplant preferably during the first year of life, additional study is required. This will be important, because new therapies must demonstrate comparable quality-of-life outcomes to stem cell transplantation. We await preliminary results from this study of human α-L-iduronidase enzyme replacement being directed by Dr. Kakkis following studies in an animal model.31Kakkis ED McEntee MF Schmidtchen A Neufeld EF Ward DA Gompf RE et al.Long-term and high-dose trials of enzyme replacement therapy in the canine model of Mucopolysaccharidosis I.Biochem Molec Med. 1996; 58: 156-167Crossref PubMed Scopus (159) Google Scholar To date, stem cell transplantation remains the only effective intervention for Hurler syndrome." @default.
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• W2042552004 title "Hurler syndrome: Past, present, and future" @default.
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