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.

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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

 

Watch Vitamin Levels in Shwachman-Diamond Syndrome

According to a recent small retrospective study in Pancreas (May 2015 – Volume 44 – Issue 4 – p 590–595) with 21 children, there were high rates of vitamin deficiencies (particularly vitamin A) and selenium deficiency.

Nutritional Status in Children with Schwachman-Diamond Syndrome

From abstract:

Results: Twenty patients (95%) had pancreatic insufficiency receiving PERT, 10 (47%) had a combined vitamin and trace element deficiency, 6 (29%) had an isolated vitamin deficiency, and 4 (19%) had an isolated trace element deficiency. Vitamins A and E deficiency occurred in 16 (76%) and 4 (19%) of 21, respectively. Low serum selenium was found in 10 (47%), zinc deficiency in 7 (33%), and copper deficiency in 5 (24%). Eleven patients (52%) were on multivitamin supplementation, and 2 (10%) on zinc and selenium supplements. No statistical differences were found between repeated measurements for all micronutrients.

Conclusions: More than 50% of the children had vitamin A and selenium deficiencies despite adequate supplementation of PERT and supplements. Micronutrients should be routinely measured in SDS patients to prevent significant complications.

Related blog post:

Sandy Springs

Sandy Springs

 

Shwachman-Diamond Syndrome

A recent study provides an update on the variable clinical presentation of Shwachman-Diamond syndrome (SDS) (J Pediatr 2014; 163: 866-70).

SDS, an autosomal recessive disorder, is characterized by exocrine pancreatic dysfunction, bone marrow dysfunction, and predisposition to myelodysplasia/leukemia.  It is due to a mutation in the SBDS gene located on chromosome 7q11 (found in ~90% of classically presenting cases of SDS.

Using a North American Registry, the authors reviewed the records of 37 patients (all who have had mutations in SBDS gene). Key findings:

  • Neutropenia was evident at presentation in 30/37 (81%)
  • Only 51% had both neutropenia and steatorrhea at presentation
  • 24/37 (65%) had congenital anomalies: 3 with ventricular septal defects, 1 malrotation, 1 imperforate anus, 9 thoracic dystrophy (rib abnormalities), 2 with short arms/legs, 4 with metaphyseal dysplasia, 1 with Chiari malformation (type 1), 2 with testicular atrophy.
  • Medical comorbidities included elevated LFTs in 15, adrenal insufficiency in 1, hypopituitarism in 1, type 1 diabetes in 1, hypothyroid in 1, and eczema in 11.

Take-home message: Normal pancreatic imaging studies and normal fecal elastase do not rule out SDS. In addition, frequently there are associated anomalies and comorbidities.