Deterrence/Prevention

See the list below:

No prevention for Shwachman-Diamond syndrome is known.
Advise parents to obtain genetic counseling.
A genetic test for carrier status is available. All siblings of patients with Shwachman-Diamond syndrome should undergo genetic testing. Persons who carry a single Shwachman-Diamond syndrome mutation do not have clinical symptoms.

Complications

See the list below:

Malabsorption due to pancreatic insufficiency
- Diarrhea
- Hypoproteinemia
- Fat-soluble vitamin deficiencies
Failure to thrive^[43]
Recurrent bacterial infections (eg, upper respiratory tract infections, otitis media, sinusitis, pneumonia, aphthous stomatitis, skin infections, paronychia, osteomyelitis, bacteremia); patients at risk for overwhelming sepsis^[5]
Hearing loss secondary to recurrent otitis media
Predilection for developing bone marrow failure and leukemic transformation in 5-33% of patients with Shwachman-Diamond syndrome^[84]
- Frequency increases with age.
- Acute myeloid leukemia, acute lymphoid leukemia, and juvenile chronic myeloid leukemia have been reported in patients with Shwachman-Diamond syndrome.
Hemosiderosis secondary to multiple red cell transfusions
Coxa vara deformity
Slipped femoral epiphysis^[76]
Kyphosis and scoliosis^[76]
Osteopenia, osteoporosis^[74]
Cirrhosis of the liver
ADHD and learning difficulties^[77]
Diastolic dysfunction and depressed left ventricular contractility during stress^[78]

Prognosis

Long-term prognosis for individuals with Shwachman-Diamond syndrome is uncertain and varies.

Patients with Shwachman-Diamond syndrome are at an increased risk of infection secondary to neutropenia and a neutrophil migration defect. Sepsis and death may occur.^[5]

An increased incidence of myelodysplasia and transformation to acute myeloid leukemia is reported. Acute myeloid leukemia is usually unresponsive to conventional chemotherapy and requires allogenic hematopoietic stem cell transplantation.^{[10, 11]}Even after stem cell transplantation, the prognosis in these patients is poor, mainly due to organ toxicity related to treatment (specifically cardiotoxicity).^[31]This has led to a new debate regarding whether patients with Shwachman-Diamond syndrome have a predisposed myocardium, through genetic mechanisms, which become clinically significant after stress of treatment with cardiotoxic conditioning regimens such as whole-body radiation and cyclophosphamide.^[92]

Patient Education

See the list below:

Educate families on all aspects of this disease and the importance of notifying a physician whenever the patient has a fever or is not acting well.

Questions

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Media Gallery

Autosomal recessive inheritance.

of 1

Author

Antoinette C Spoto-Cannons, MD, FAAP Associate Professor of Pediatrics, Department of Pediatrics, Primary Care Clerkship Co-Director, University of South Florida, Morsani College of Medicine

Antoinette C Spoto-Cannons, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, Association of American Medical Colleges, Council on Medical Student Education in Pediatrics, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, Gold Humanism Honor Society, Physicians for Social Responsibility

Disclosure: Nothing to disclose.

Coauthor(s)

Jessica Marie Keshishian, MD Resident Physician, Department of Pediatrics, University of South Florida

Jessica Marie Keshishian, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Student Association/Foundation, Christian Medical and Dental Associations

Disclosure: Nothing to disclose.

Sarah Syed University of South Florida College of Medicine

Sarah Syed is a member of the following medical societies: American Medical Student Association/Foundation

Disclosure: Nothing to disclose.

Mudra Kumar, MD, MRCP, FAAP Professor of Pediatrics, Course Director, Course 6 MSII, Preclerkship Director, Clinical Integration, Department of Pediatrics, University of South Florida Morsani College of Medicine

Mudra Kumar, MD, MRCP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.