Molecular Characterization of a Portuguese Patient with Shwachman-Diamond Syndrome
نویسندگان
چکیده
منابع مشابه
Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic find...
متن کاملShwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
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...
متن کاملA case of Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...
متن کاملHematologically important mutations: Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...
متن کاملShwachman Diamond Syndrome: an emergency challenge
Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic ana...
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ژورنال
عنوان ژورنال: Journal of Pediatric Gastroenterology and Nutrition
سال: 2005
ISSN: 0277-2116
DOI: 10.1097/01.mpg.0000155184.61625.fc