Aggiornamento monografico
Sindrome di Shwachman-Diamond: uno studio collaborativo
SHWACHMAN-DIAMOND SYNDROME: A COLLABORATIVE STUDY
GIGLIO L1, PETAROS P1, NERI E1; AMICI A, STEFANELLI M (Perugia); BARBERA C (Torino); BRUSCHI L (Pavia); CATASSI C (Ancona); CAVALERI G (Caltanisetta); CIMADAMORE N (Ivrea); CIPOLLI M, D’ORAZIO C (Verona); DI BONA E (Vicenza); FAILLA P (Troina); FARAGUNA D (Gorizia/Monfalcone); FILIPPI L (Firenze); FUSCO P (Savigliano); GENTILE T (L’Aquila); GHILARDI R (Milano); GUARISO G, VAROTTO S (Padova); LUCIDI V (Roma); MARCHI A (Pavia); MASI M (Bologna); MIANO A (Cesena); NOTARANGELO LD (Brescia); PADOAN R (Milano); PEROTTI P (Torino); POGGI V, MENNA G, RAIA V (Napoli); ROGGERO P (Milano); SACCHINI P (Rimini); SPATARO A (Palermo); STRAMARE D (Pordenone); TACCETTI G (Firenze); UGHI C (Pisa); VALERIOTI S (S. Giorgio Morgeto); MASTELLA G (Verona); ASSOCIAZIONE ITALIANA SINDROME DI SHWACHMAN (AISS)
1Centro Regionale per la Fibrosi Cistica, Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Febbraio 2002 - pagg. 85 -89
Abstract
Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive
character, with quite variable clinical expression, course and prognosis. The mechanisms
of the disease are still not well understood, but effective symptomatic treatment is available.
The Authors describe the epidemiology of the disease as derived from the data collected
through the development of an Italian registry, and underline the importance of
networking and collaboration among specialists to provide optimal and consistent management
of cases across the country. 56 cases were identified (1 per 1 million residents). Although
the identification of all cases may not yet be complete, this is the largest available national
series of SD syndrome.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Kent A, Murphy GH, Milla P. Psychological
characteristics of children with Shwachman
syndrome. Arch Dis Child 1990; 65:1349-52.
2. Cipolli M, D’Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G. Shwachman’s syndrome: Pathomorphosis and long-term outcome. JPGN 1999;29:265-72.
3. Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM. Segregation Analysis in Shwachman-Diamond syndrome: Evidence for Recessive Inheritance. Am J Hum Genet 2000;66:1413-6.
4. Masuno M, Imaizumi K, Nishimura G, Nakamura M, Saito I, Akagi K, Kuroki Y. Shwachman syndrome associated with de novo reciprocal translocation t(6;12) (q16.2; q21.2). J Med Genet 1995;32:894-5.
5. Masuno I, Kumano Y, Okawa A, et al. Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene. Clin Genet 1999;55:466- 72.
6. Goobie S, Morrison J, Ginzberg H, et al. Exclusion of linkage of Shwachman-Diamond Syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am J Med Genet 1999;85:171-4.
7. Rommers J. Genetics-Recent developments. Atti First International Meeting Shwachman Diamond Syndrome. Verona, 2001.
8. Paterson CR, Wormsley KG. Hypothesis: Shwachman’s syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency. Ann Nutr Metabol 1988; 32:127-32.
9. Mack DR, Forstner GG, Wilschanski M, et al. Shwachman Syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593- 602.
10. Aggett PJ, Cavanagh NP, Matthew DJ, et al. Shwachman’s syndrome: a rewiew of 21 cases. Arch Dis Child 1980;55:331-47.
11. Tada H, Ri T, Yoshida H, et al. A case of Shwachman syndrome with increase spontaneous chromosome breakage. Hum Genet 1987;77:289-91.
12. Hershkovits B, Dagan J, Freier S. Increase spontaneous chromosomal breakage in Shwachman syndrome. J Pediatr Gastroenterol Nutr 1999;28:449-50.
13. Fraccaro M, Scappaticci S, Aricò M. Shwachman syndrome and chromosome breakage. Hum Genet 1988;79:194
14. Koiffmann CP, Gonzalez CH, Souza DH, et al. Is Shwachman syndrome a chromosome breakage syndrome? Hum Genet 1991;87:106- 7.
15. Ginzberg H, Shin J, Ellis L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135: 81- 8.
16. Lacaille F, Mani TM, Brunelle F, et al. Magnetic Resonance Imaging for diagnosis of Shwachman’s Syndrome. J Pediatr Gastroenterol Nutr 1996;23:599-603.
17. MacMaster S, Cummings TM. Computed tomography and ultrasonography findings for an adult with Shwachman syndrome and pancreatic lipomatosis. Can Assoc Radiol J 1993;44:301-3.
18. Smith OP, Hann IM, Chessells JM, et al. Haematological abnormalities in Shwachman- Diamond syndrome. British J Haematology 1996;94:279-84.
19. Sunil Dhar, Anderton JM. Orthopaedic features of Shwachman Syndrome. J Bone and Joint Surgery 1994;76:278-82.
20. Dror Y, Durie P, Marcon P, et al. Duplication of distal thumb phalanx in Shwachmann Diamond syndrome. Am J Med Gen 1998; 78:67-9.
21. Kornfeld S, Kratz J, Diamond F, et al. Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency. J Allergy Clin Immunol 1995;96:247-50.
22. Goeteyn M, Oranje AP, Vuzevski VD, et al. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation and metaphyseal dysplasia. Arch Dermatol 1991;127:225-30.
23. Faber J, Lauener R, Wick F, et al. Shwachman- Diamond syndrome: Early bone marrow transplantation in patient and new clues to pathogenesis. Eur J Pediatr 1999;158:995- 1000.
24. Weinblatt ME, Scimeca P, James-Herry A, et al. Transformation of congenital neutropenia into monosomy 7 and acute non-lymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor. J Pediatr 1995;126:263-5.
25. Associazione Italiana Sindrome di Shwachman. Linee guida di diagnosi, terapia e follow- up per la sindrome di Shwachman. Riv Ital Pediatr 2001;27:26-9.
26. Savilahti E, Rapola J. Frequent myocardial lesions in Shwachman’s syndrome. Eight Fatal cases among 16 Finnish Patients. Acta Paedatr Scand 1984;73:642-51.
27. Rybojad M,Cambiaghi S, Vignon-Pennamen MD, et al. Nutritional deficiency and the skin in Shwachman syndrome. Br J Derma 1996;135:330-45.
2. Cipolli M, D’Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G. Shwachman’s syndrome: Pathomorphosis and long-term outcome. JPGN 1999;29:265-72.
3. Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM. Segregation Analysis in Shwachman-Diamond syndrome: Evidence for Recessive Inheritance. Am J Hum Genet 2000;66:1413-6.
4. Masuno M, Imaizumi K, Nishimura G, Nakamura M, Saito I, Akagi K, Kuroki Y. Shwachman syndrome associated with de novo reciprocal translocation t(6;12) (q16.2; q21.2). J Med Genet 1995;32:894-5.
5. Masuno I, Kumano Y, Okawa A, et al. Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene. Clin Genet 1999;55:466- 72.
6. Goobie S, Morrison J, Ginzberg H, et al. Exclusion of linkage of Shwachman-Diamond Syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am J Med Genet 1999;85:171-4.
7. Rommers J. Genetics-Recent developments. Atti First International Meeting Shwachman Diamond Syndrome. Verona, 2001.
8. Paterson CR, Wormsley KG. Hypothesis: Shwachman’s syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency. Ann Nutr Metabol 1988; 32:127-32.
9. Mack DR, Forstner GG, Wilschanski M, et al. Shwachman Syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593- 602.
10. Aggett PJ, Cavanagh NP, Matthew DJ, et al. Shwachman’s syndrome: a rewiew of 21 cases. Arch Dis Child 1980;55:331-47.
11. Tada H, Ri T, Yoshida H, et al. A case of Shwachman syndrome with increase spontaneous chromosome breakage. Hum Genet 1987;77:289-91.
12. Hershkovits B, Dagan J, Freier S. Increase spontaneous chromosomal breakage in Shwachman syndrome. J Pediatr Gastroenterol Nutr 1999;28:449-50.
13. Fraccaro M, Scappaticci S, Aricò M. Shwachman syndrome and chromosome breakage. Hum Genet 1988;79:194
14. Koiffmann CP, Gonzalez CH, Souza DH, et al. Is Shwachman syndrome a chromosome breakage syndrome? Hum Genet 1991;87:106- 7.
15. Ginzberg H, Shin J, Ellis L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135: 81- 8.
16. Lacaille F, Mani TM, Brunelle F, et al. Magnetic Resonance Imaging for diagnosis of Shwachman’s Syndrome. J Pediatr Gastroenterol Nutr 1996;23:599-603.
17. MacMaster S, Cummings TM. Computed tomography and ultrasonography findings for an adult with Shwachman syndrome and pancreatic lipomatosis. Can Assoc Radiol J 1993;44:301-3.
18. Smith OP, Hann IM, Chessells JM, et al. Haematological abnormalities in Shwachman- Diamond syndrome. British J Haematology 1996;94:279-84.
19. Sunil Dhar, Anderton JM. Orthopaedic features of Shwachman Syndrome. J Bone and Joint Surgery 1994;76:278-82.
20. Dror Y, Durie P, Marcon P, et al. Duplication of distal thumb phalanx in Shwachmann Diamond syndrome. Am J Med Gen 1998; 78:67-9.
21. Kornfeld S, Kratz J, Diamond F, et al. Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency. J Allergy Clin Immunol 1995;96:247-50.
22. Goeteyn M, Oranje AP, Vuzevski VD, et al. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation and metaphyseal dysplasia. Arch Dermatol 1991;127:225-30.
23. Faber J, Lauener R, Wick F, et al. Shwachman- Diamond syndrome: Early bone marrow transplantation in patient and new clues to pathogenesis. Eur J Pediatr 1999;158:995- 1000.
24. Weinblatt ME, Scimeca P, James-Herry A, et al. Transformation of congenital neutropenia into monosomy 7 and acute non-lymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor. J Pediatr 1995;126:263-5.
25. Associazione Italiana Sindrome di Shwachman. Linee guida di diagnosi, terapia e follow- up per la sindrome di Shwachman. Riv Ital Pediatr 2001;27:26-9.
26. Savilahti E, Rapola J. Frequent myocardial lesions in Shwachman’s syndrome. Eight Fatal cases among 16 Finnish Patients. Acta Paedatr Scand 1984;73:642-51.
27. Rybojad M,Cambiaghi S, Vignon-Pennamen MD, et al. Nutritional deficiency and the skin in Shwachman syndrome. Br J Derma 1996;135:330-45.