Shwachman-Diamond Syndrome Questions & Answers

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Questions & Answers

Overview

What is Shwachman-Diamond syndrome (SDS)?

What are the signs and symptoms of Shwachman-Diamond syndrome (SDS)?

Which lab tests are included in the workup for Shwachman-Diamond syndrome (SDS)?

What is the focus of treatment for Shwachman-Diamond syndrome (SDS)?

What is the pathophysiology of Shwachman-Diamond syndrome (SDS)?

What is the US prevalence of Shwachman-Diamond syndrome (SDS)?

What is the global prevalence of Shwachman-Diamond syndrome (SDS)?

What is the morbidity and mortality associated with Shwachman-Diamond syndrome (SDS)?

What are the racial predilections of Shwachman-Diamond syndrome (SDS)?

What are the sexual predilections of Shwachman-Diamond syndrome (SDS)?

At what age is Shwachman-Diamond syndrome (SDS) typically diagnosed?

Presentation

Which clinical history findings are characteristic of Shwachman-Diamond syndrome (SDS)?

Which physical exam findings are characteristic of Shwachman-Diamond syndrome (SDS)?

What causes Shwachman-Diamond syndrome (SDS)?

DDX

How is Pearson syndrome differentiated from Shwachman-Diamond syndrome (SDS)?

What are the differential diagnoses for Shwachman-Diamond Syndrome?

Workup

What is the role of lab tests in the workup for Shwachman-Diamond syndrome (SDS)?

What is the role of imaging studies in the workup of Shwachman-Diamond syndrome (SDS)?

What is the role of genetic testing in the workup of Shwachman-Diamond syndrome (SDS)?

What is the role of neuropsychological testing in the workup of Shwachman-Diamond syndrome (SDS)?

What is the role of biopsy in the workup of Shwachman-Diamond syndrome (SDS)?

Which results of duodenal aspiration are characteristic of Shwachman-Diamond syndrome (SDS)?

Which histologic findings are characteristic of Shwachman-Diamond syndrome (SDS)?

How is Shwachman-Diamond syndrome (SDS) diagnosed?

Treatment

How is Shwachman-Diamond syndrome (SDS) treated?

Which specialist consultations are beneficial to patients with Shwachman-Diamond syndrome (SDS)?

Which dietary modifications are used in the treatment of Shwachman-Diamond syndrome (SDS)?

Which activity modifications are used in the treatment of Shwachman-Diamond syndrome (SDS)?

Follow-up

How is Shwachman-Diamond syndrome (SDS) prevented?

What are the possible complications of Shwachman-Diamond syndrome (SDS)?

What is the prognosis for Shwachman-Diamond syndrome (SDS)?

What is included in patient education about Shwachman-Diamond syndrome (SDS)?

Medications

Which medications in the drug class Vitamins are used in the treatment of Shwachman-Diamond Syndrome?

Which medications in the drug class Colony-stimulating factors are used in the treatment of Shwachman-Diamond Syndrome?

Which medications in the drug class Pancreatic enzymes are used in the treatment of Shwachman-Diamond Syndrome?