A rare case: Shwachman–Diamond syndrome presenting with diabetic ketoacidosis

Akdoğan, Mehmet Fatih; Altay, Mustafa; Denizli, Nazım; Gücün, Murat; Tanrikulu, Seher; Duranay, Murat

doi:10.1007/s12020-011-9460-7

Cited by 5 publications

(2 citation statements)

References 4 publications

(4 reference statements)

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“…9–14 Gana et al reported an occurrence rate of diabetes of 3.23% in 62 gene-positive individuals with SBDS from the Italian registry, a 30-fold increase over that of the general population. 9 Our cohort included 1 of 25 (4%) individuals with SBDS mutations with a concomitant diagnosis of type 1 diabetes.…”

Section: Discussionmentioning

confidence: 99%

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

Myers

Rose

Rutter

et al. 2013

The Journal of Pediatrics

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Objective To characterize the endocrine phenotype of patients with Shwachman-Diamond syndrome (SDS). Study design Clinically indicated endocrine screening data from 43 patients with SDS or SDS-like presentation were analyzed according to sex, age, and genetic testing. In addition to 25 patients with biallelic Shwachman-Bodian-Diamond syndrome (SBDS) gene mutations, we evaluated 18 patients with cytopenias who were receiving pancreatic enzyme replacement but were without SBDS mutation. We performed a retrospective review of growth records and clinically indicated endocrine evaluations. Results Of patients with SBDS mutations, 2 had low stimulated growth hormone levels, 2 had mildly elevated thyrotropin levels, 5 had abnormal glucose levels, and 1 had an elevated follicle-stimulating hormone level (post transplantation). In contrast, 1 patient without SBDS mutations had postprandial hyperglycemia and 3 had mildly low free thyroxine levels without short stature. Endocrine abnormalities were identified in 19% of short patients and 26% of the whole group. Of patients with SBDS mutations, 56% had a height expressed in SD units from the mean for age and sex of <−1.8, in contrast to only 12% of patients without SBDS mutations (38% of the whole group). Body mass index z score was significantly greater in the group with SBDS mutations (P < .001). Conclusion Although short stature was more common in patients with SBDS mutations, no consistent endocrine phenotype was observed in patients with SDS regardless of genetic testing.

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Section: Discussionmentioning

confidence: 99%

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

Myers

Rose

Rutter

et al. 2013

The Journal of Pediatrics

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“…Insulin-dependent diabetes, growth hormone deficiency, hypogonadotropic hypogonadism, hypothyroidism and short stature are endocrine changes described in SDS (11) . Impaired growth involves multiple factors including pancreatic insufficiency, feeding difficulties, recurrent infections and metaphyseal dysostoses.…”

Section: Discussionmentioning

confidence: 99%

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

Alves¹,

Fernandes²,

Sampaio³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 103/µL), neutropenia (segmented neutrophils: 15-22%), but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition) confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

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Shwachman-Diamond Syndrome

Myers¹,

Shimamura²

2018

Pediatric Oncology

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A rare case: Shwachman–Diamond syndrome presenting with diabetic ketoacidosis

Cited by 5 publications

References 4 publications

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

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

Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

Shwachman-Diamond Syndrome

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