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

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

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]


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