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:
- Shwachman-Diamond Syndrome | gutsandgrowth
- Watch Vitamin Levels in Shwachman-Diamond Syndrome
- Postgraduate Course Notes -Pancreatitis Module
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: https://doi.org/10.1016/j.gie.2020.04.037 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
