Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
| Autor: | Raquel de Melo Alves Paiva, Julia Constança Fernandes, Crésio Alves, Rodrigo T. Calado, Silvana Sampaio |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Exocrine pancreatic insufficiency/genetics Case Report Neutropenia Hematocrit Cystic fibrosis Bacterial infections hemic and lymphatic diseases medicine Humans Exocrine pancreatic insufficiency Child Shwachman–Diamond syndrome Leukopenia Case reports medicine.diagnostic_test business.industry lcsh:RC633-647.5 Leukopenia/genetics Hematology lcsh:Diseases of the blood and blood-forming organs medicine.disease Leukemia Lameness medicine.symptom business |
| Zdroj: | Revista Brasileira de Hematologia e Hemoterapia Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013) |
| ISSN: | 1806-0870 1516-8484 |
| Popis: | 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 10(3)/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. |
| Databáze: | OpenAIRE |
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