The Greek Registry of Shwachman Diamond‐Syndrome: Molecular and clinical data

Delaporta, Polyxeni; Sofocleous, Christalena; Economou, Marina; Makis, Alexandros; Kostaridou, Stavroula; Kattamis, Antonis

doi:10.1002/pbc.26630

Cited by 13 publications

(17 citation statements)

References 20 publications

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“…Blepharitis has been reported in other marrow failure syndromes (Tsilou et al, 2010). These findings extend previously reported immunologic manifestations in SDS including hemophagocytic lymphohistiocytosis, psoriasis, two cases of autoimmune‐like liver disease which did not respond to immunosuppressive therapy, several cases of Type 1 diabetes mellitus, duodenal inflammation, and inflammatory bowel disease (Delaporta et al, 2017; Gana et al, 2011; Myers et al, 2014; Nissen et al, 2019; Schaballie et al, 2013; Shah et al, 2010; Veropalumbo et al, 2015).…”

Section: Discussionsupporting

confidence: 90%

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Furutani

Shah

Zhao

et al. 2020

American J of Med Genetics Pt A

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Shwachman-Diamond syndrome (SDS) is an autosomal recessive multisystem disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and leukemia predisposition. Approximately 90% of cases are due to biallelic mutations in the Shwachman-Bodian-Diamond (SBDS) gene. Additional phenotypic features variably associated with SDS include skeletal, neurologic, hepatic, cardiac, endocrine, and dental abnormalities. We report five subjects with SDS who developed a range of inflammatory manifestations. Three patients developed inflammatory eye conditions. Single cases of juvenile idiopathic arthritis, chronic recurrent multifocal osteomyelitis, and scleroderma were also noted. Clinical presentation and treatment responses are described. Proteomic analysis revealed increased inflammatory signatures in SDS subjects as compared to controls. Treatment of inflammatory manifestations in patients with SDS may be complicated by potential myelosuppressive toxicities of anti-rheumatic medications. Further research is needed to better understand the potential link between inflammatory disorders and SDS to inform effective treatment strategies.

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Section: Discussionsupporting

confidence: 90%

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Furutani

Shah

Zhao

et al. 2020

American J of Med Genetics Pt A

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“…Although short stature and failure to thrive are not included in diagnostic criteria of SDS, most papers [2,5,[12][13][14][15][16] and our data indicate that abnormal somatic development comprises a cardinal symptom of the syndrome. It is common for most patients.…”

Section: Discussionmentioning

confidence: 71%

“…Our analyses showed that weight and BMI of SDS patients with regard to the growth age, were not below − 2 SDS confirming that malnutrition is not the main factor leading to growth retardation. Children with poor growth can benefit from an endocrinological evaluation and tests for growth hormone deficiency [14].…”

Section: Discussionmentioning

confidence: 99%

“…There is a significant variability in clinical phenotype, even within families. Most studies on the somatic development of children with SDS have been limited to weight and height, with only a few studies assessing BMI [5,[12][13][14][15][16]. The majority of studies demonstrated that SDS patients present with growth failure, nevertheless systematic data concerning those features are limited.…”

Section: Introductionmentioning

confidence: 99%

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Somatic development in children with Shwachman-Diamond syndrome

et al. 2020

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Background Shwachman-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. Methods An 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. Results A 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. Conclusions Patients 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.

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“…Our analyses showed that weight and BMI of SDS patients with regard to the growth age, were not below − 2 SDS con rming that malnutrition is not the main factor leading to growth retardation. Children with poor growth can bene t from an endocrinological evaluation and tests for growth hormone de ciency 14 .…”

Section: Discussionmentioning

confidence: 99%

Somatic development in children with Shwachman-Diamond Syndrome

Bogusz-Wójcik

Kołodziejczyk

Klaudel‐Dreszler

et al. 2020

Preprint

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Background: Shwachman-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.Methods: An 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.Results: A 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.Conclusions: Patients 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.

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The Greek Registry of Shwachman Diamond‐Syndrome: Molecular and clinical data

Cited by 13 publications

References 20 publications

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Somatic development in children with Shwachman-Diamond syndrome

Somatic development in children with Shwachman-Diamond Syndrome

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