Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.

Author: BianZhuli, GuChangjuan, HanXue, LuShuanglong, QiaoXiaohong, XieXiaotian

Paper Details 
Original Abstract of the Article :
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, i...See full text at original site
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引用元:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557232/

データ提供:米国国立医学図書館(NLM)

Shwachman-Diamond Syndrome: A Rare Genetic Disorder

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects bone marrow, pancreas, and other organs. This study provides a comprehensive overview of SDS, summarizing the clinical features, epidemiology, and treatment options for this complex condition. The authors highlight the diverse clinical phenotypes associated with SDS, underscoring the need for a multidisciplinary approach to diagnosis and management.

The review analyzes the internationally published literature on SDS, providing valuable insights into the challenges faced by individuals with this disorder. The study's findings emphasize the need for further research to develop effective treatments and improve the quality of life for patients with SDS.

SDS: Understanding the Complexities

This study serves as a valuable resource for healthcare providers and individuals seeking information about SDS. The review provides a detailed account of the clinical features, epidemiology, and treatment options for this rare genetic disorder. The authors' work highlights the importance of early diagnosis and management to minimize the long-term effects of SDS.

Living with SDS: A Collaborative Approach

Individuals with SDS often face a multitude of challenges. This review underscores the importance of a multidisciplinary approach to manage this complex disorder. Working closely with healthcare professionals, including hematologists, gastroenterologists, and other specialists, is essential for optimizing care and improving quality of life.

Dr.Camel's Conclusion

SDS, like a hidden oasis in the vast desert of genetic disorders, requires careful navigation. This study offers a roadmap for understanding and managing this complex condition. It is a testament to the ongoing pursuit of knowledge and the commitment to improving the lives of those affected by rare diseases.

Date :
  1. Date Completed 2023-11-03
  2. Date Revised 2023-11-22
Further Info :

Pubmed ID

37803383

DOI: Digital Object Identifier

PMC10557232

Related Literature

SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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