caa a22 4500 475786327 CHVBK 20180406123659.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/s004310050001 doi (NATIONALLICENCE)springer-10.1007/s004310050001 Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature [Elektronische Daten] [C. F. Boerkoel, S. O'Neill, J. L. André, P. J. Benke, R. Bogdanovíć, M. Bulla, A. Burguet, S. Cockfield, I. Cordeiro, J. H. H. Ehrich, S. Fründ, D. F. Geary, A. Ieshima, F. Illies, M. W. Joseph, I. Kaitila, G. Lama, B. Leheup, M. D. Ludman, D. R. McLeod, A. Medeira, D. V. Milford, T. Örmälä, Z. Rener-Primec, A. Santava, H. G. Santos, B. Schmidt, G. C. Smith, J. Spranger, N. Zupancic, R. Weksberg] Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals. Springer-Verlag Berlin Heidelberg, 2000 Key words Osteochondrodysplasia nationallicence Cerebral ischaemia nationallicence Immunologic deficiency syndrome nationallicence Kidney failure nationallicence Hypothyroidism nationallicence Focal glomerulosclerosis nationallicence Boerkoel C. F. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut O'Neill S. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut André J. L. Hôpital d'Enfants, Vandoeuvre Cedex, France, FR aut Benke P. J. University of Miami, Miami, Florida, USA, US aut Bogdanovíć R. Institute of Mother and Child Health, Belgrade, Yugoslavia aut Bulla M. KfH Kinderdialyse, University Children's Hospital, University of Münster, Münster, Germany, DE aut Burguet A. Centre Hospitalier Universitaire de Besancon, Besancon Cedex, France, FR aut Cockfield S. University of Alberta, Edmonton, Canada, CA aut Cordeiro I. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut Ehrich J. H. H. Kinderklinik, Medizinische Hochschule, Hannover, Germany, DE aut Fründ S. KfH Kinderdialyse, University Children's Hospital, University of Münster, Münster, Germany, DE aut Geary D. F. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut Ieshima A. Kaike Rehabilitation Centre for Disabled Children, Yonago, Japan, JP aut Illies F. Universitätsklinikum Essen, Essen, Germany, DE aut Joseph M. W. Children's Hospital and Medical Centre, Seattle, Washington, USA, US aut Kaitila I. Helsinki University Central Hospital, Helsinki, Finland, FI aut Lama G. Department of Paediatrics, Second University, Naples, Italy, IT aut Leheup B. Hôpital d'Enfants, Vandoeuvre Cedex, France, FR aut Ludman M. D. IWK Grace Health Centre, Dalhousie University, Halifax, Canada, CA aut McLeod D. R. Alberta Children's Hospital, Calgary, Canada, CA aut Medeira A. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut Milford D. V. Birmingham Children's Hospital, Birmingham, UK, GB aut Örmälä T. Helsinki University Central Hospital, Helsinki, Finland, FI aut Rener-Primec Z. University Pediatric Hospital, Ljubljana, Slovenia, SI aut Santava A. University Hospital, Olomouc, Czech Republic, CZ aut Santos H. G. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut Schmidt B. University Children's Hospital, Cologne, Germany, DE aut Smith G. C. University Hospital of Wales, Cardiff, UK, GB aut Spranger J. University Children's Hospital, Mainz, Germany, DE aut Zupancic N. University Pediatric Hospital, Ljubljana, Slovenia, SI aut Weksberg R. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut https://doi.org/10.1007/s004310050001 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050001 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Boerkoel C. F. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut NATIONALLICENCE 700 1- O'Neill S. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut NATIONALLICENCE 700 1- André J. L. Hôpital d'Enfants, Vandoeuvre Cedex, France, FR aut NATIONALLICENCE 700 1- Benke P. J. University of Miami, Miami, Florida, USA, US aut NATIONALLICENCE 700 1- Bogdanovíć R. Institute of Mother and Child Health, Belgrade, Yugoslavia aut NATIONALLICENCE 700 1- Bulla M. KfH Kinderdialyse, University Children's Hospital, University of Münster, Münster, Germany, DE aut NATIONALLICENCE 700 1- Burguet A. Centre Hospitalier Universitaire de Besancon, Besancon Cedex, France, FR aut NATIONALLICENCE 700 1- Cockfield S. University of Alberta, Edmonton, Canada, CA aut NATIONALLICENCE 700 1- Cordeiro I. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut NATIONALLICENCE 700 1- Ehrich J. H. H. Kinderklinik, Medizinische Hochschule, Hannover, Germany, DE aut NATIONALLICENCE 700 1- Fründ S. KfH Kinderdialyse, University Children's Hospital, University of Münster, Münster, Germany, DE aut NATIONALLICENCE 700 1- Geary D. F. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut NATIONALLICENCE 700 1- Ieshima A. Kaike Rehabilitation Centre for Disabled Children, Yonago, Japan, JP aut NATIONALLICENCE 700 1- Illies F. Universitätsklinikum Essen, Essen, Germany, DE aut NATIONALLICENCE 700 1- Joseph M. W. Children's Hospital and Medical Centre, Seattle, Washington, USA, US aut NATIONALLICENCE 700 1- Kaitila I. Helsinki University Central Hospital, Helsinki, Finland, FI aut NATIONALLICENCE 700 1- Lama G. Department of Paediatrics, Second University, Naples, Italy, IT aut NATIONALLICENCE 700 1- Leheup B. Hôpital d'Enfants, Vandoeuvre Cedex, France, FR aut NATIONALLICENCE 700 1- Ludman M. D. IWK Grace Health Centre, Dalhousie University, Halifax, Canada, CA aut NATIONALLICENCE 700 1- McLeod D. R. Alberta Children's Hospital, Calgary, Canada, CA aut NATIONALLICENCE 700 1- Medeira A. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut NATIONALLICENCE 700 1- Milford D. V. Birmingham Children's Hospital, Birmingham, UK, GB aut NATIONALLICENCE 700 1- Örmälä T. Helsinki University Central Hospital, Helsinki, Finland, FI aut NATIONALLICENCE 700 1- Rener-Primec Z. University Pediatric Hospital, Ljubljana, Slovenia, SI aut NATIONALLICENCE 700 1- Santava A. University Hospital, Olomouc, Czech Republic, CZ aut NATIONALLICENCE 700 1- Santos H. G. Hospital de Santa Maria, Lisbon Cedex, Portugal, PT aut NATIONALLICENCE 700 1- Schmidt B. University Children's Hospital, Cologne, Germany, DE aut NATIONALLICENCE 700 1- Smith G. C. University Hospital of Wales, Cardiff, UK, GB aut NATIONALLICENCE 700 1- Spranger J. University Children's Hospital, Mainz, Germany, DE aut NATIONALLICENCE 700 1- Zupancic N. University Pediatric Hospital, Ljubljana, Slovenia, SI aut NATIONALLICENCE 700 1- Weksberg R. Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8 Canada, email: rweksbg@sickkids.on.ca Tel.: +1-416-813-6386, Fax: +1-416-813-5345, CA aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer