Briefly Noted: Shwachman-Diamond

S Cesaro et al. J Pediatr 2020; 219: 196-201.  This prospective study with 121 patients provides long-term survival information regarding Shwachman-Diamond syndrome which is characterized by exocrine pancreatic insufficiency, hematologic alterations, skeletal abnormalities and sometimes liver disease. Key findings:

  • Initial hematologic parameters included severe neutropenia in 25.8%  , thrombocytopenia in 25.5%, and anemia in 4.6%; cumulative incidence of these abnormalities at 30 years of age were 59.9%, 66.8%, and 20.2% respectively
  • 20-year cumulative incidence of myelodysplasia/leukemia was 9.8% and of bone marrow failure/severe cytopenia was 9.9%.
  • 15 (12.4%) underwent stem cell transplantation
  • 15 (12.4%) died with probability of survival at 10 yrs: 95.7% and at 20 yrs 87.4%

My take: This study shows the hematologic morbidities associated with Shwachman-Diamond –important information for the pediatric gastroenterologist following these children for pancreatic insufficiency or liver-related abnormalities.

Related blog posts:

Also, a previous post (Do Button Battery Guidelines Need to be Revised?) reviewed an abstract suggesting that gastric button batteries could result in mucosal injury.  This has now been published: (Gastrointestinal Endoscopy, DOI: In press) Gastric injury secondary to button battery ingestions: a retrospective multicenter review

Curbside humor: How do you make a tissue dance?  Put a little boogie in it.

Island Ford National Recreation Area/Chattahoochee River


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