Shwachman-Diamond syndrome: Difference between revisions

	Shwachman-Diamond syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Shwachman-Diamond Syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Shwachman-Diamond syndrome On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Shwachman-Diamond syndrome All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Shwachman-Diamond syndrome
CDC on Shwachman-Diamond syndrome
Shwachman-Diamond syndrome in the news
Blogs on Shwachman-Diamond syndrome
Directions to Hospitals Treating Shwachman-Diamond syndrome
Risk calculators and risk factors for Shwachman-Diamond syndrome

	Shwachman-Diamond syndrome;
OMIM	260400
DiseasesDB	11894

VisualWikitext

Revision as of 17:29, 21 September 2012

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Congenital lipomatosis of pancreas;

Diagnosis

History

Clinical Management and Treatments

Pancreatic exocrine insufficiency may be treated through pancreatic enzyme supplementation, while severe skeletal abnormalities may require surgical intervention. Neutropenia may be treated with granulocyte-colony stimulating factor (GCSF) to boost peripheral neutrophil counts. However, there is ongoing and unresolved concern that this drug could contribute to the development of leukemia. Signs of progressive marrow failure may warrant bone marrow transplantation (BMT). This has been used successfully to treat hematological aspects of disease. However, SDS patients have an elevated occurrence of BMT-related adverse events, including graft-versus-host disease (GVHD) and toxicity relating to the pre-transplant conditioning regimen. In the long run, study of the gene that is mutated in SDS should improve understanding of the molecular basis of disease. This, in turn, may lead to novel therapeutic strategies, including gene therapy and other gene- or protein-based approaches.

References

Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ (2005). "Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome". J Biol Chem. 280 (19): 19221–9. PMID 15701631.
Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, Gluckman E, Breddius R, Boogaerts M, Vermylen C, Veys P, Marsh J, Badell I, Michel G, Gungor T, Niethammer D, Bordigoni P, Oswald C, Favre C, Passweg J, Dini G (2005). "Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation". Br J Haematol. 31 (2): 231–6. PMID 16197455.
Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, Leverger G, Laporte JP, Hermine O, Buzyn A, Bertrand Y, Casanova JL, Leblanc T, Gluckman E, Fischer A, Stephan JL (2005). "Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry". Bone Marrow Transplant. 36 (9): 787–92. PMID 16151425.
Austin KM, Leary RJ, Shimamura A (2005). "The Shwachman-Diamond SBDS protein localizes to the nucleolus". Blood. 106 (4): 1253–8. PMID 15860664.
Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG (2004). "Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS". Clin Genet. 65 (2): 101–12. PMID 14984468.
Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM (2003). "Mutations in SBDS are associated with Shwachman-Diamond syndrome". Nat Genet. 33 (1): 97–101. PMID 12496757.
Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM (2002). "Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene". Eur J Hum Genet. 10 (4): 250–8. PMID 12032733.
Smith OP (2002). "Shwachman-Diamond syndrome". Semin Hematol. 39 (2): 95–102. PMID 11957191.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Morgon K, Fujiwara TM, Durie PR, Rommens JM (2001). "Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7". Am J Hum Genet. 68 (4): 1048–54. PMID 11254457.
Cipolli M (2001). "Shwachman-Diamond syndrome: clinical phenotypes". Pancreatology. 1 (5): 543–8. PMID 12120235.
Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G (1999). "Shwachman's syndrome: pathomorphosis and long-term outcome". J Pediatr Gastroenterol Nutr. 29 (3): 265–72. PMID 10467990.
Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (1999). "Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar". J Pediatr. 135 (1): 81–8. PMID 10393609.
Michels VV, Donovan GK (1982). "Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy". Birth Defects Orig Artic Ser. 18 (3B): 129–34. PMID 7139093.
Shwachman H, Diamond LK, Oski FA, Khaw KT (1964). "The syndrome of pancreatic insufficiency and bone marrow dysfunction". J Pediatr. 65: 645–63. PMID 14221166.
Bodian M, Sheldon W, Lightwood R (1964). "Congenital hypoplasia of the exocrine pancreas". Acta Paediatr. 53: 282–93. PMID 14158482.

External links

it:Sindrome di Shwachman-Diamond fi:Shwachman-Diamondin oireyhtymä

Template:WikiDoc Sources

@@ Line 19: / Line 19: @@
 {{SK}} Congenital lipomatosis of pancreas;
-==Clinical Features==
-This syndrome shows a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormalities and growth retardation. [[Neutropenia]] may be intermittent or persistent and is the most common haematological finding. Low [[neutrophil]] counts leave patients at risk of developing severe recurrent infections that may be life-threatening. [[Anemia]] (low [[red blood cell]] counts) and [[thrombocytopenia]] (low [[platelet]] counts) may also occur.  Bone marrow is typically hypocellular, with maturation arrest in the myeloid lineages that give rise to neutrophils, [[macrophages]], platelets and red blood cells. Patients may also develop progressive marrow failure or transform to [[acute myelogenous leukemia]]. Pancreatic exocrine insufficiency arises due to a lack of acinar cells that produce digestive enzymes.  These are extensively depleted and replaced by fat. A lack of pancreatic [[digestive enzymes]] leaves patients unable to digest and absorb fat. However, pancreatic status may improve with age in some patients.  More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status.  Other skeletal abnormalities include metaphyseal dysostosis (45% of patients), thoracic dystrophy (rib cage abnormalities in 46% of patients), and costochondral thickening (shortened ribs with flared ends in 32% of patients).  Skeletal problems are one of the most variable components of SDS, with 50% affected siblings from the same family discordant for clinical presentation or type of abnormality.  Despite this, a careful review of [[radiography|radiographs]] from 15 patients indicated that all of them had at least one skeletal anomaly, though many were sub-clinical.
 ==Diagnosis==