Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Rev. bras. hematol. hemoter
;
35(4): 290-292, 2013. graf
Artigo
em Inglês
| LILACS
| ID: lil-687922
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Insuficiência Pancreática Exócrina
/
Infecções Bacterianas
/
Fibrose Cística
/
Relatório de Pesquisa
/
Leucopenia
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
Hematologia
Ano de publicação:
2013
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal da Bahia/BR
/
Universidade de São Paulo/BR
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