¨A síndrome de Shwachman-Diamond é uma doença autossômica recessiva rara caracterizada por insuficiência pancreática exócrina, neutropenia intermitente ou persistente e alterações esqueléticas. Outras características incluem o sistema imunológico, alterações hepáticas e cardíacas e predisposição à leucemia. Infecções bacterianas, virais e fúngicas recorrentes são comuns. É uma doença hereditária causada por mutações de um gene que codifica a proteína SBDS. Até agora pouco se sabe sobre a função exata do SBDS. Os pacientes com SDS apresentam vários distúrbios hematológicos, incluindo neutropenia e síndrome mielodisplásica (MDS), com risco aumentado de evolução leucêmica. Insuficiência pancreática exócrina e diarréia são características importantes no diagnóstico da síndrome de Shwachman-Diamond. A síndrome também tem sido classicamente descrita pela tríade de insuficiência da medula óssea, insuficiência pancreática exócrina e anomalias esqueléticas. Displasia esquelética, anormalidades imunológicas, defeitos cardíacos, disfunção hepática e comprometimento neuropsicológico também podem ocorrer. A insuficiência exócrina pancreática tem sido estabelecida há muito tempo como característica marcante dos pacientes com esta síndrome, embora sua gravidade varie. Os lactentes tipicamente apresentam múltiplos sintomas gastrintestinais, incluindo diarreia, esteatorréia, altura <3º percentil, déficit de crescimento ou deficiências de vitaminas lipossolúveis [1-2]. A insuficiência pancreática é confirmada pela dosagem sérica de tripsinogênio (pacientes <3 anos), isoamilase sérica (pacientes> 3 anos), elastase fecal ou gordura fecal em 72 horas. A imagem do pâncreas por ultrassonografia / ressonância magnética pode revelar infiltração gordurosa. ¨
■ Delayed diagnosis of Shwachman Diamond syndrome with short telomeres and a reviewof cases in Asia
Shin Yeu Ong, Shao-Tzu Li, Gee Chuan Wong et al
Leuk Res Rep. 2018; 9: 54–57
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993352/
■ Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?
Matthew C. Fadus, Eric T. Rush, Christina K. Lettieri
Clin Case Rep. 2017 Jun; 5(6): 748–752.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457995/
■ Multiple and bilateral cilioretinal arteries with Shwachman-Diamond syndrome
M P Breazzano, N M Benegas
Ophthalmology 2017, vol 124 (9): 1352
https://www.aaojournal.org/article/S0161-6420(17)30450-5/fulltext
■ Thoracic hypoplasia at birth as presenting feature of Shwachman-Diamond syndrome in Twins
Letizia Capasso, Angela Carla Borrelli, Julia Cerullo et AL
J Pediatr Genet. 2016 Sep; 5(3): 158–160
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999326/
■ New insights into the Shwachman-Diamond syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes
Valentino Bezzerri, Antonio Vella, Elisa Calcaterra et AL
Sci Rep. 2016; 6: 33165.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034238/
■ Inherited bone marrow failure syndrome in adolescents and young adults
David B. Wilson, Daniel C. Link, Philip J. Mason, Monica Bessler
Ann Med. 2014 Sep; 46(6): 353–363.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426964/
■ Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Sheachman-Diamond syndrome
Kasiani C. Myers, Susan R. Rose, Meilan M. Rutter et al
J Pediatr. 2013 Jun; 162(6): 1235–1240.e1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693331/
■ Shwachman-Diamond syndrome: diarrhea, no longer required?
Jeffrey R. Andolina, Colleen B. Morrison, Alexis A. Thompson et al
J Pediatr Hematol Oncol. 2013 Aug; 35(6): 486–489
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514592/
■ Mutation screening of elongation factor 2 in Shwachman-Diamond syndrome patients lacking mutations in the SBDS gene
E Nicolis, M Cipolli
ISRN Genetics 2013, Article ID 951202, 4 pages
https://www.hindawi.com/journals/isrn/2013/951202/
■ Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Alves, Cresio et al.
Rev Bras Hematol Hemoter, 2013, vol.35, no.4, p.290-292
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000400290&lng=en&nrm=iso
■ Pluripotent stem cell models of Schwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction
Asmin Tulpule, James M. Kelley, M. William Lensch et al
Cell Stem Cell. 2013 Jun 6; 12(6): 727–73
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755012/
■ Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
Jean Donadieu, Odile Fenneteau, Blandine Beaupain et al
the associated investigators of the French Severe Chronic Neutropenia Registry
Haematologica. 2012 Sep; 97(9): 1312–1319
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436231/
■ Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome
Vittorio Necchi, Antonella Minelli, Patrizia Sommi et AL
Haematologica. 2012 Jul; 97(7): 1057–106
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3396678/
■ Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence
Gillian A Horne, Timothy Chevassut
BMJ Case Rep. 2012; 2012: bcr2012007305
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543924/
■ Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome
James Huang, Akiko Shimamura
Curr Opin Hematol. 2011 Jan; 18(1): 30–35.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485416/
■ Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics
Claudia Orelio, Taco W. Kuijpers
Haematologica. 2009 Mar; 94(3): 409–413
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649349/
■ Shwachman Diamond syndrome – a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment
L Burroughs, A Woolfrey, A Shimamura
Hematol Oncol Clin North 2009, vol 23 (2): 233-248
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754297/
■ Shwachman-Diamond syndrome: UK perspective
G W Hall, J A Dodge
Arch Dis Child 2006, vol 91 (6): 521-524
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082808/
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Anales de Pediatria 2006, vol 65 (1)
https://www.analesdepediatria.org/es-sndrome-shwachman-diamond-articulo-13090901
■ Síndrome de Shwachman-Diamond: reporte de caso y revisión de la literatura
E A A Sánchez, g L Aburto, P Volkow, C Z García
Médica Sur, México MG 2005, vol 12 (2)
http://www.medigraphic.com/pdfs/medsur/ms-2005/ms052g.pdf
■ A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy
T Kamoda, T Saito, H Kinugasa et AL
Diabetes Care 2005, vol 28 (6): 1508-1509
http://care.diabetesjournals.org/content/28/6/1508]
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