Somatic development in children with Shwachman-Diamond syndrome

Bogusz-Wójcik, Agnieszka; Kołodziejczyk, Honorata; Klaudel‐Dreszler, Maja; Oracz, Grzegorz; Pawłowska, Joanna; Szalecki, Mieczysław

doi:10.1186/s13052-020-00919-z

Cited by 4 publications

(4 citation statements)

References 22 publications

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“…Despite adequate nutrition and pancreatic enzyme replacement, 38% of children with SDS are reported to have height and weight below the third percentile for age and sex [11]. Delayed bone age and maturation with metaphyseal dysplasia result in short stature, pectus carinatum, osteopenia, and abnormal somatic development [12,13]. Other clinical features may also occur, including dental abnormalities, psychomotor retardation, eczema or ichthyosis, and mental retardation (Table 1).…”

Section: Introductionmentioning

confidence: 99%

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Navasardyan

Furlan²,

Brandt

et al. 2023

Preprint

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Background. Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. Case presentation Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. Conclusions Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

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Section: Introductionmentioning

confidence: 99%

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Navasardyan

Furlan²,

Brandt

et al. 2023

Preprint

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“…Despite adequate nutrition and pancreatic enzyme replacement, 38% of children with SDS are reported to have height and weight below the third percentile for age and sex [ 11 ]. Delayed bone age and maturation with metaphyseal dysplasia result in short stature, pectus carinatum, osteopenia, and abnormal somatic development [ 12 , 13 ]. Other clinical features may also occur, including dental abnormalities, psychomotor retardation, eczema or ichthyosis, and mental retardation (Table 1 ).…”

Section: Introductionmentioning

confidence: 99%

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Navasardyan

Furlan

Brandt³

et al. 2023

Ital J Pediatr

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Background Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. Case presentation Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. Conclusions Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

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“…Short stature is a recognised feature found in approximately 70–80% of patients with SDS [ 9 – 12 ]. The pathophysiology for short stature in SDS remains unclear.…”

Section: Introductionmentioning

confidence: 99%

“…After diagnosis and the start of an appropriate therapy, the growth rate is restored to a normal level in most of the children with SDS, even though it consistently remains below the third percentile for height and weight [ 11 ]. Moreover, some patients with SDS have been diagnosed with growth hormone (GH) deficiency [ 9 – 14 ].…”

Section: Introductionmentioning

confidence: 99%

Growth hormone improves short stature in children with Shwachman-Diamond syndrome

Bogusz-Wójcik¹,

Kołodziejczyk²,

Moszczyńska³

et al. 2021

pedm

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Introduction Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study To assess the effect of rGH treatment in patients with SDS. Material and Methods Retrospective data were collected from patients with SDS and growth hormone deficiency (GHD) treated with rGH in the Children’s Memorial Health Institute in Warsaw. The annual growth velocity (GV) and height standard deviation score (SD) were compared for up to 2 years of rGH treatment. Results Six SDS patients (M : F = 1 : 5) treated with rGH were identified. The median age of starting rGH therapy was 7.5 years, with a mean baseline height SD of –4.06 (range: –6.3 to –2.3 SD). The height SD significantly improved to –3.3 ( p = 0.002) and then –3.03 ( p = 0.002), following 1 and 2 years of treatment, respectively. The average GV for the patients prior to starting treatment was 4.9 cm/year (range: 3.1–6.5 cm/year), which significantly improved to 7.6 cm/year (range: 5.7–9.6 cm/year) after 1 year of rGH treatment ( p = 0.020) and to 6.7 cm/year at the end of 2 years. Conclusions Our study has shown that rGH treatment significantly improves the height SDS and GV of patients with SDS and GHD without any side effects. Further research is required to analyse the long-term effect of rGH therapy in patients with SDS.

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Somatic development in children with Shwachman-Diamond syndrome

Cited by 4 publications

References 22 publications

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

Growth hormone improves short stature in children with Shwachman-Diamond syndrome

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