Haematological abnormalities in Shwachman-Diamond syndrome

British Journal of Haematology

Volumn 94, Issue 2, 1996, Pages 279-284

  Smith, Owen P ^a,c   Hann, Ian M ^a   Chessells, Judith M ^a   Reeves, Brian R ^b   Milla, Peter ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ADELAIDE AND MEATH HOSPITAL   (Ireland)

Author keywords

AML; chromosome 7; HbF; MDS; SDS

Indexed keywords

HEMOGLOBIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ANEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; HEMATOLOGIC DISEASE; HUMAN; INCIDENCE; MALE; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; PRIORITY JOURNAL; SHWACHMAN SYNDROME; THROMBOCYTOPENIA; ACUTE MYELOBLASTIC LEUKEMIA; BONE MARROW EXAMINATION; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; DISEASE CLASSIFICATION; HEMOGLOBIN BLOOD LEVEL; HUMAN CELL; NEUTROPHIL CHEMOTAXIS; PRESCHOOL CHILD; SCHOOL CHILD;

EID: 0029929155     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.d01-1788.x     Document Type: Article

References (35)

1. Adachi, N., Tsuchiya, H., Nunoi, H., Higuchi, S., Akaboshi, I. & Chikazowa, W. (1990) RHG-CSF for Shwachman's syndrome. Lancet, 336, 1139.
2. Aggett, P.J., Cavanagh, N.P.C., Matthew, D.J., Pincott, J.R., Sutcliffc, J. & Harries, J.T. (1980) Shwachman's syndrome. Archives of Diseases in Childhood, 55, 331-347.
3. Aggett, P.J., Harries, J.T., Harvey, B.A.M. & Soothill, J.F. (1979) An inherited effect of neutrophil mobility in Shwachman syndrome. Journal of Pediatrics, 94, 391-394.
4. Azzara, A., Carulli, G., Ceccarelli, M., Paucci, C., Raggio, R. & Ambrogi, F. (1991) In vivo effectiveness of lithium on impaired neutrophil chemotaxis in Shwachman-Diamond syndrome. Acta Haematologica, 85, 100-102.
5. Barrios, N.J. & Kirkpatrick, D.V. (1990) Successful cyclosporin A treatment of aplastic anaemia in Shwachman-Diamond syndrome. British Journal of Haematology, 74, 540-541.
6. Barrios, N.J. & Kirkpatrick, D.V. (1991) Bone marrow transplant in Shwachman-Diamond syndrome. British Journal of Haematology. 79, 337-338.
7. Bennett, J.M., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D.A.G., Gralnick, H.R. & Sultan, C. (1976) Proposals for the classification of the acute leukaemias (FAB cooperative group). British Journal of Haematology, 33, 451-458.
8. Bennett, J.M., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D.A.G., Gralnick, H.R. & Sultan, C. (1982) Proposals for the classification of the myelodysplastic syndromes. British Journal of Haematology, 51, 189-199.
9. Boogaerts, M.A., Nelissen, V., Roelant, C. & Gossens, W. (1983) Blood neutrophil function in primary myelodysplastic syndrome. British Journal of Haematology, 55, 217-227.
10. Butturini, A., Gale, R.P., Verlander, P.C., Alder-Brecher, B., Gillio, A.P. & Auerhack, A.D. (1994) Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry Study. Blood, 85, 1650-1555.
11. Caselitz, J., Kloppel, G., Delling, G., Gruttner, R., Holdhoff, U. & Stern, M. (1979) Shwachman's syndrome and leukaemia. Virchows Archives (A), 385, 109-112.
12. Gluckman, E. (1989) Bone marrow transplantation for Fanconi's anaemia. Bailliere's Clinical Haematology, 2, 153-162.
13. Gretillat, F., Delepine, N., Taillard, F., Desbois, J.C. & Misset, J.L. (1985) Shwachman's syndrome transformed into leukaemia. Presse Medicale, 14, 45-48.
14. Grill, J., Bernaudin, F., Dresch, C., Lumerle, S. & Reinert, P. (1993) Traitement de la neutropenie du syndrome de Shwachman par le facteur de croissance des granuleux (G-CSF). Archives Françaises de Pediatrie, 50, 331-333.
15. Hows, J.M., Chapple, M., March, J.C.W., Durrant, S., Yin. J.L., Swirsky, D. & Gordon-Smith, E.C. (1989) Bone marrow transplantation for Fanconi anaemia: the Hammersmith experience. 1977-1989. Bone Marrow Transplantation, 4, 629-634.
16. Ikuta, K., Sasaki, H., Koiso, Y., Kawashima, T., Ohnishi, S. & Matsuyama, S. (1980) A case of Shwachman's syndrome (pancreatic insufficiency and bone marrow dysfunction): evaluation of hemopoietic disorder by in vitro culture technique. Japanese Journal of Clinical Hematology, 21, 1989-1991.
17. Koiffman, C.P., Gonzales, C.H., Souza, D.H., Romani, E.G., Kim, C.A. & Wajntal, A. (1991) Is Shwachman syndrome (McKusick 26040) a chromosomal breakage syndrome? Human Genetics, 87, 106-107.
18. Maschek, H., Kalousti, V., Rodriguez-Kaiser, M., Werner, M., Choritz, H., Mainzer, K., Dietzselvinger, M. & Georgii, A. (1993) Hypoplastic myelodysplasic syndrome: incidence, morphology, cytogenetics and prognosis. Annals of Hematology, 66, 117-122.
19. Milla, P.J. (1981) Investigation and management of pancreatic-disease in children. Pancreatic Disease in Clinical Practice (ed. by C. J. Mitchell and J. Kelleher), Ch, 19, pp. 291-308. Pitman Medical. Tunbridge Wells.
20. Mitelman, F. (ed.) (1992) ISCN 1991: Guidelines for Cancer Cytogenetics, Supplement of an International System for Human Cytogenetic Nomenclature. S. Karger, Basel.
21. Nezeloff, C. & Watchi, M. (1961) L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant (deux observations et revue de la litterature). Archives Françaises de Pediatrie, 18, 20-24.
22. Passmore, S.J., Hann, I.M., Stiller, C.A., Ramani, P., Swansbury, G.T., Gibbons, B., Reeves, B.R. & Chesseus, J.M. (1995) Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood, 85, 1742-1750.
23. Ruutu, P., Ruutu, T., Repo, H., Vuopio, P., Timonen, T., Kosmen, T.U. & de la Chapelle, A. (1981) Defective neutrophil migration in monosomy-7. Blood, 58, 739-745.
24. Ruutu, P., Savilahti, E., Repo, H. & Kosunen, T.U. (1984) Constant defect in neutrophil locomotion but with age decreasing susceptibility to infection in Shwachman syndrome. Clinical and Experimental Immunology, 57, 249-255.
25. Savilahti, E. & Rapola, J. (1984) Frequent myocardial lesions in Shwachman's syndrome: eight fatal cases among 16 Finnish patients. Acta Paediatrica Scandinavica, 73, 642.
26. Saunders, E.F., Gall, G., & Freedman, M.H. (1979) Granulopoiesis in Shwachman's syndrome (pancreatic insufficiency and bone marrow dysfunction). Pediatrics, 64, 515-519.
27. Seymour, J.F. & Escudier, S.M. (1993) Acute leukaemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome. Leukaemia and Lymphoma, 12, 131-135.
28. Shwachman, H., Diamond, L.K., Oski, F.A. & Khan, K.T. (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. Journal of Pediatrics, 65, 645-663.
29. Smith, O.P., Chan, M.Y., Evans, J.P. & Veys, P. (1995) Shwachman-Diamond syndrome and matched unrelated donor BMT. Bone Marrow Transplantation, 16, 717-718.
30. Stevens, M.J., Lilleyman, J.S. & Williams, R.B. (1978) Shwachman's syndrome and acute lymphoblastic leukaemia. British Medical Journal, ii, 18-20.
31. Suda, T., Ikuta, K., Mizoquchi, H., Sasaki, H., Miura, Y., Nagao, T. & Kubota, K. (1982) Hemopoietic colony-forming cells in Shwachman's syndrome. American Journal of Pediatric Hematology and Oncology, 4, 129-132.
32. Tsai, P.H., Sahdev, I., Herry, A. & Lipton, J.M. (1990) Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation. American Journal of Pediatric Hematology/Oncology, 12, 472-476.
33. Woods, W.C., Krivit, W., Lubin, B.H. & Ramsay, N.K.C. (1981a) Aplastic anemia associated with the Shwachman syndrome: in vivo and in vitro observations. American Journal of Pediatric Hematology/Oncology, 3, 347-351.
34. Woods, W.G., Roloff, J.S., Lukens, J.N. & Krivit, W. (1981b) The occurrence of leukemia in patients with the Shwachman syndrome. Journal of Pediatrics, 99, 425-428.
35. Young, N.S. & Alter, B.P. (1994) Aplastic Anemia. Acquired and Inherited, Ch. 17. pp. 340-346. Saunders, Philadelphia.