Nutritional status in children with Shwachman-diamond syndrome.
OBJECTIVE
In Shwachman-Diamond syndrome (SDS), pancreatic insufficiency can lead to malabsorption of fat-soluble vitamins and trace elements. The aim of this study was to assess the serum concentrations of vitamins A and E, zinc, copper, and selenium and their deficiencies.


METHODS
This retrospective review was performed in 21 children (12 were male; median age, 7.8 years) with genetically confirmed SDS at a tertiary pediatric hospital. Pancreatic enzyme replacement therapy (PERT) and vitamin or trace elements supplements were documented.


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.
From the *Department of Paediatric Gastroenterology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom; †Department of Paediatric and Adolescent Medicine, Medical University of Vienna, Austria; and ‡Department of Haematology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Judith
J
Pichler
Rosan
R
Meyer
Jutta
J
Köglmeier
Phil
P
Ancliff
Neil
N
Shah
D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D001855:Bone Marrow Diseases / Q000097:blood / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood / Q000172:deficiency; D010188:Exocrine Pancreatic Insufficiency / Q000097:blood / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000097:blood / Q000150:complications*; D008286:Malabsorption Syndromes / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D008297:Male; D018977:Micronutrients / Q000097:blood / Q000172:deficiency*; D009752:Nutritional Status; D012189:Retrospective Studies; D012643:Selenium / Q000097:blood / Q000172:deficiency; D000081003:Shwachman-Diamond Syndrome; D014801:Vitamin A / Q000097:blood; D014802:Vitamin A Deficiency / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D015032:Zinc / Q000097:blood / Q000172:deficiency
D015415:Biomarkers; D018977:Micronutrients; D014801:Vitamin A; D014810:Vitamin E; D003300:Copper; D012643:Selenium; D015032:Zinc