Somatic development in children with Shwachman-Diamond syndrome

Italian Journal of Pediatrics

Honorata Kołodziejczyk¹  Agnieszka Bogusz-Wójcik²  Mieczysław Szalecki³  Grzegorz Oracz⁴  Maja Klaudel-Dreszler⁴  Joanna Pawłowska⁴ 

[1] Anthropology Department, The Children’s Memorial Health Institute, Warsaw, Poland;Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Av. Dzieci Polskich 20, 04-736, Warsaw, Poland;Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Av. Dzieci Polskich 20, 04-736, Warsaw, Poland;Collegium Medicum, University of Jan Kochanowski, Kielce, Poland;Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children’s Memorial Health Institute, Warsaw, Poland;

关键词: Somatic development;    Shwachman-Diamond syndrome;    Anthropometric parameters;    Short stature;   

DOI  :  10.1186/s13052-020-00919-z

来源: Springer

【 摘 要 】

BackgroundShwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.MethodsAn analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),aged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children’s Memorial Health Institute in Warsaw, Poland was performed. The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age.ResultsA total of 66 measurements was collected and analyzed with a median number of 3 observations per patient. The group of boys presented with a significantly lower height (− 3.0 SD, p < 0.0001) and BMI (− 1.4 SD, p < 0.00001), and in the relation to the growth age a lower weight (− 1.0 SD, p < 0.001) as well as a smaller chest width (− 0.9 SD, p < 0.05), hip width (− 0,5 SD, p < 0,05) and lower limb length (− 0,5 SD, p < 0,05). The group of girls also showed significantly lower height (− 2.6 SD, p < 0.00001) and BMI (− 0.8 SD, p < 0.00001), and in relation to the growth age, lower weight (− 0.5 SD, p < 0.001) as well as decreased width of the chest (− 1.7 SD, p < 0.0001) and shoulder (− 1.0 SD, p < 0.001) were observed. Boys and girls were also characterized by significantly decreased circumference and width of head, additionally, girls had also smaller head length.ConclusionsPatients with SDS have abnormal somatic development. Both boys and girls are characterized by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.

【 授权许可】

CC BY