中文｜English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 7
Jul.  2022
Turn off MathJax
Article Contents
Article Navigation >  Journal of Clinical Hepatology  > 2022  >  38(7): 1691-1693

Clinical features and management of Shwachman-Diamond syndrome

DOI: 10.3969/j.issn.1001-5256.2022.07.045

  • Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China

Research funding:

National Key Research and Development Program of China (2021YFC2700800)

More Information
  • Corresponding author: XIE Xinbao, xxb116@163.com(ORCID: 0000-0002-3692-7356)
  • Received Date: 2021-11-23
  • Accepted Date: 2022-01-13
  • Published Date: 2022-07-20
    Abstract
  • Shwachman-Diamond syndrome is an autosomal recessive disorder that may involve multiple visceral organs of the body, with the main manifestations of exocrine pancreatic insufficiency, bone marrow failure, and skeletal abnormalities with frequent liver involvement. In order to improve the awareness of this disease among clinicians, this article summarizes the pathogenesis, clinical features, diagnosis, and long-term management of Shwachman-Diamond syndrome. Early diagnosis, early treatment, and regular follow-up are the key to improving the prognosis of children with Shwachman-Diamond syndrome.

     

    • FullText(HTML)
  • loading
    • References(30)
  • [1]
    SHWACHMAN H, DIAMOND LK, OSKI FA, et al. The syndrome of pancreatic insufficiency and bone marrow dysfunction[J]. J Pediatr, 1964, 65: 645-663. DOI: 10.1016/s0022-3476(64)80150-5.
    [2]
    BODIAN M, SHELDON W, LIGHTWOOD R. Congenital hypoplasia of the exocrine pancreas[J]. Acta Paediatr, 1964, 53: 282-293. DOI: 10.1111/j.1651-2227.1964.tb07237.x.
    [3]
    MINELLI A, NICOLIS E, CANNIOTO Z, et al. Incidence of Shwachman-Diamond syndrome[J]. Pediatr Blood Cancer, 2012, 59(7): 1334-1335. DOI: 10.1002/pbc.24260.
    [4]
    BOOCOCK GR, MORRISON JA, POPOVIC M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome[J]. Nat Genet, 2003, 33(1): 97-101. DOI: 10.1038/ng1062.
    [5]
    WARREN AJ. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome[J]. Adv Biol Regul, 2018, 67: 109-127. DOI: 10.1016/j.jbior.2017.09.002.
    [6]
    NELSON AS, MYERS KC. Diagnosis, treatment, and molecular pathology of Shwachman-Diamond Syndrome[J]. Hematol Oncol Clin North Am, 2018, 32(4): 687-700. DOI: 10.1016/j.hoc.2018.04.006.
    [7]
    CIPOLLI M, TRIDELLO G, MICHELETTO A, et al. Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old[J]. BMJ Open, 2019, 9(1): e022617. DOI: 10.1136/bmjopen-2018-022617.
    [8]
    HALL GW, DALE P, DODGE JA. Shwachman-Diamond syndrome: UK perspective[J]. Arch Dis Child, 2006, 91(6): 521-524. DOI: 10.1136/adc.2003.046151.
    [9]
    LIU JM, LIPTON JM, MANI S. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back[J]. Ann N Y Acad Sci, 2011, 1242: 26-39. DOI: 10.1111/j.1749-6632.2011.06348.x.
    [10]
    SAVAGE SA, DUFOUR C. Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia[J]. Semin Hematol, 2017, 54(2): 105-114. DOI: 10.1053/j.seminhematol.2017.04.004.
    [11]
    DROR Y, DONADIEU J, KOGLMEIER J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome[J]. Ann N Y Acad Sci, 2011, 1242: 40-55. DOI: 10.1111/j.1749-6632.2011.06349.x.
    [12]
    CESARO S, PILLON M, SAUER M, et al. Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)[J]. Bone Marrow Transplant, 2020, 55(9): 1796-1809. DOI: 10.1038/s41409-020-0863-z.
    [13]
    SCHABALLIE H, RENARD M, VERMYLEN C, et al. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome[J]. Eur J Pediatr, 2013, 172(5): 613-622. DOI: 10.1007/s00431-012-1908-0.
    [14]
    TOIVIAINEN-SALO S, DURIE PR, NUMMINEN K, et al. The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood[J]. J Pediatr, 2009, 155(6): 807-811. e2. DOI: 10.1016/j.jpeds.2009.06.047.
    [15]
    CAMACHO SM, MCLOUGHLIN L, NOWICKI MJ. Cirrhosis complicating Shwachman-Diamond syndrome: A case report[J]. World J Clin Cases, 2019, 7(12): 1456-1460. DOI: 10.12998/wjcc.v7.i12.1456.
    [16]
    VEROPALUMBO C, CAMPANOZZI A, DE GREGORIO F, et al. Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease[J]. Clin Res Hepatol Gastroenterol, 2015, 39(1): e1-4. DOI: 10.1016/j.clinre.2014.06.017.
    [17]
    BUCCIOL G, CASSIMAN D, ROSKAMS T, et al. Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome[J]. Orphanet J Rare Dis, 2018, 13(1): 69. DOI: 10.1186/s13023-018-0818-2.
    [18]
    HAUET Q, BEAUPAIN B, MICHEAU M, et al. Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey[J]. Int J Cardiol, 2013, 167(3): 1048-1050. DOI: 10.1016/j.ijcard.2012.10.084.
    [19]
    KOPEL L, GUTIERREZ PS, LAGE SG. Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome[J]. Cardiol Young, 2011, 21(5): 588-590. DOI: 10.1017/S1047951111000308.
    [20]
    BOGUSZ-WÓJCIK A, KOłODZIEJCZYK H, MOSZCZYŃSKA E, et al. Endocrine dysfunction in children with Shwachman-Diamond syndrome[J]. Endokrynol Pol, 2021, 72(3): 211-216. DOI: 10.5603/EP.a2021.0014.
    [21]
    ALBRECHT LA, GORGES SW, STYNE DM, et al. Shwachman-Diamond syndrome presenting as hypoglycemia[J]. Clin Pediatr (Phila), 2009, 48(2): 212-214. DOI: 10.1177/0009922808323114.
    [22]
    KERR EN, ELLIS L, DUPUIS A, et al. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function[J]. J Pediatr, 2010, 156(3): 433-438. DOI: 10.1016/j.jpeds.2009.09.026.
    [23]
    PEROBELLI S, ALESSANDRINI F, ZOCCATELLI G, et al. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach[J]. Neuroimage Clin, 2015, 7: 721-731. DOI: 10.1016/j.nicl.2015.02.014.
    [24]
    IKUSE T, KUDO T, ARAI K, et al. Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan[J]. Pediatr Int, 2018, 60(8): 719-726. DOI: 10.1111/ped.13601.
    [25]
    DELAPORTA P, SOFOCLEOUS C, ECONOMOU M, et al. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data[J]. Pediatr Blood Cancer, 2017, 64(11). DOI: 10.1002/pbc.26630.
    [26]
    NICOLIS E, BONIZZATO A, ASSAEL BM, et al. Identification of novel mutations in patients with Shwachman-Diamond syndrome[J]. Hum Mutat, 2005, 25(4): 410. DOI: 10.1002/humu.9324.
    [27]
    ANDOLINA JR, MORRISON CB, THOMPSON AA, et al. Shwachman-Diamond syndrome: diarrhea, no longer required?[J]. J Pediatr Hematol Oncol, 2013, 35(6): 486-489. DOI: 10.1097/MPH.0b013e3182667c13.
    [28]
    MYERS KC, BOLYARD AA, OTTO B, et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry[J]. J Pediatr, 2014, 164(4): 866-870. DOI: 10.1016/j.jpeds.2013.11.039.
    [29]
    PICHLER J, MEYER R, KÖGLMEIER J, et al. Nutritional status in children with Shwachman-diamond syndrome[J]. Pancreas, 2015, 44(4): 590-595. DOI: 10.1097/MPA.0000000000000291.
    [30]
    MYERS KC, FURUTANI E, WELLER E, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study[J]. Lancet Haematol, 2020, 7(3): e238-e246. DOI: 10.1016/S2352-3026(19)30206-6.
    • Relative Articles
    • Supplements(0)
    • Cited By
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索
    Get Citation
    PDF
    XML

    Article Metrics

    Article views (516) PDF downloads(55) Cited by()
    Proportional views
    Related
        

    The first journal specializing in hepatobiliary and pancreatic diseases in China

    Supervisor：Ministry of Education of the People's Republic of China

    Sponsor：Jilin University

    Academic Support: Chinese Society of Hepatology，Chinese Medical Association

    Address: 461 Xinjiang Road, Changchun

    Submit：0431-88782044

    Peer review：0431-88783542

    Email：lcgdb@vip.163.com

    About Journal

    Submission Guideline

    Journal Online

    Hepatobiliary College

    Guidelines

    YesterdayIP[]YesterdayPV[]TodayIP[]TodayPV[]Online[]

    Website Design © 2020 Editorial Board of Journal of Clinical Hepatology 吉ICP备10000617号-1 Supported by: Beijing Renhe Information Technology Co. Ltd  

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return