Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Rev. bras. hematol. hemoter
;
35(4): 290-292, 2013. graf
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Infecciones Bacterianas
/
Fibrosis Quística
/
Informe de Investigación
/
Leucopenia
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Rev. bras. hematol. hemoter
Asunto de la revista:
Hematología
Año:
2013
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal da Bahia/BR
/
Universidade de São Paulo/BR
Similares
MEDLINE
...
LILACS
LIS