Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

Myers, Kasiani C.; Rose, S. Rutherfoord; Rutter, Meilan M.; Mehta, Parinda A.; Cole, Theresa; Harris, Richard E.

doi:10.1016/j.jpeds.2012.11.062

Cited by 19 publications

(17 citation statements)

References 22 publications

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“…Patient 05 is still receiving growth hormone treatment, while patients 01 and 07 received the treatment around puberty with moderate response. Four similar cases have been previously reported . Transaminasemia was documented in 55% of the patients but resolved during follow‐up in all but one patient .…”

Section: Discussionsupporting

confidence: 77%

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

Delaporta

Sofocleous

Economou

et al. 2017

Pediatric Blood & Cancer

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This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.

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Section: Discussionsupporting

confidence: 77%

“…Four similar cases have been previously reported. [13][14][15] Transaminasemia was documented in 55% of the patients but resolved during follow-up in all but one patient. 3,16 Consistent to previous reports, mild cognitive impairment was recorded in four patients.…”

Section: Discussionmentioning

confidence: 96%

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

Delaporta

Sofocleous

Economou

et al. 2017

Pediatric Blood & Cancer

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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%

“…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%

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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“…Currently, hematopoietic stem cell transplantation is reported to be the only effective method to treat bone marrow failure [9]. In addition, growth hormone therapy can have the benefits of SDS with short stature [10]. Based on the GH stimulation test results, the child was treated with rhGH, and the therapeutic effect is satisfactory.…”

Section: Discussionmentioning

confidence: 99%

The Advantage of High Throughput Sequencing for the Diagnosis of Child Shwachman-Diamond Syndrome

Li¹,

Zhang²,

Yu³

et al. 2019

Arch Clin Med Case Rep

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Background: Shwachman-Diamond syndrome is a rare autosomal recessive disorder with an incidence of 1/76000.It is caused by biallelic pathogenic variants in SBDS allele, characterized by pancreatic exocrine insufficiency, abnormal blood system, and skeletal abnormalities. Here, we describe the diagnosis of a child with Shwachman-Diamond syndrome and discuss the main clinical symptoms of Shwachman-Diamond syndrome and the importance of genetic testing for its diagnosis. Case description: A 5.5 year-old boy was hospitalized in our ward of the Second Affiliated Hospital of Dalian Medical University due to short stature. The patient was also found to have significantly reduced or lack of neutrophils, repeated infections, and thrombocytopenia. Clinical symptoms suggested the patient suffered from Shwachman-Diamond syndrome. This was confirmed two years later by gene sequencing: compound heterozygous pathogenic variants exon2 deletion and c.258+2T>C in SBDS gene were detected. They were verified by qPCR or Sanger sequencing. Conclusion:Shwachman-Diamond Syndrome may have pathological changes in multiple systems and is characterized by pancreatic exocrine dysfunction and abnormal blood cells. The clinical symptoms include growth retardation, intermittent or persistent cytopenia, repeated infections due to neutropenia. Shwachman-Diamond Syndrome is a genetic disease and gene sequencing is helpful to confirm the diagnosis.

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Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

Cited by 19 publications

References 22 publications

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

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

Somatic development in children with Shwachman-Diamond syndrome

The Advantage of High Throughput Sequencing for the Diagnosis of Child Shwachman-Diamond Syndrome

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