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SDS & Science Snapshots (2024-05-04)

In this issue: A new publication describing the symptoms of SDS in patients in China!

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

New Publication Highlights the Symptoms of SDS in China

In April, a new scientific article was published reviewing the symptoms of Shwachman-Diamond Syndrome (SDS) within the Chinese population, shedding light on this rare disease. As you may know, SDS is characterized by various symptoms like low blood cell counts, gastrointestinal problems (for example, chronic diarrhea/steatorrhea as a result of pancreatic insufficiency), developmental delays, skeletal abnormalities, and frequent infections. With this in mind, the authors of this publication found that SDS presents similarly in individuals from China as in other parts of the world. Not uncommon to the rare disease community, this study also found that about half of those with SDS faced delays in diagnosis (more than 2 years!), showing a need for greater awareness among healthcare providers, especially pediatricians in China.

This publication revealed that the most common symptoms at diagnosis in individuals with SDS in China included low blood counts (also known as cytopenia) and chronic diarrhea, while other issues like short stature and skeletal abnormalities were also common. Interestingly, while the gastrointestinal symptoms of pancreatic insufficiency tended to improve over time, low blood cell counts continued over time, which aligns with existing knowledge about the symptoms of SDS.

The authors of this article also reviewed the genetic testing results of individuals with SDS in China and they found most individuals with SDS carried the two most common variants mutations (or variants) in the SBDS gene (c.258+2T>C and c.183_184TA>CT) with other genetic mutations in the SBDS gene being more rare. Interestingly, there was one report of an individual with a mutation in the SRP54, which causes a so-called SDS-like syndrome and is inherited in an autosomal dominant pattern. For more information about the symptoms and genetic cause of SDS, check out the video below.

Moving forward, the authors of this publication advocate for a collaborative approach to managing SDS (as discussed in this previous SDS & Science Snapshot and pictured below), emphasizing the need for early diagnosis and proactive monitoring for potential complications like MDS and AML. Interestingly, MDS and AML were rarely reported in the Chinese SDS community, but the authors suggested this was because of a general lack of understanding and awareness about SDS amongst healthcare providers in China (one case report of an individual with SDS and AML in China was recently reviewed in this SDS & Science Snapshot).

This publication holds particular significance as it coincides with Asian American and Pacific Islander Heritage Month in the United States and serves as a reminder of the importance of understanding and advocating for individuals with SDS all over the world. At SDS Alliance, we recognize that our community is diverse, and we are committed to engaging with our global community to accelerate progress towards improved treatments and outcomes with SDS across the world.


For more information regarding the clinical presentation of SDS and flyers about SDS to share with your care team, you can visit our “What is SDS?” page.

Disclaimer: The information contained in this blog post is an overview of published research and is not intended to be medical advice. If you are concerned you, or a loved one, has SDS, please contact your healthcare team.

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

Wang L, Jin Y, Chen Y, Zhao P, Shang X, Liu H, Sun L. Exp Biol Med (Maywood). 2024 Apr 8;249:10035. doi: 10.3389/ebm.2024.10035. PMID: 38651168.

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