A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
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منابع مشابه
A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countrie...
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 کاملTwo Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis
Dear Editor, Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400) characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and hematologic dysfunction, with up to 30% risk of developing MDS. The SBDS gene (OMIM 607744) maps to chromosome 7q11.21, and 90% of SDS patients possess mutations of this gene [1]. To date, three SDS cases have been reporte...
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 Distinguished from Celiac Disease
Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2008
ISSN: 1011-8934
DOI: 10.3346/jkms.2008.23.1.142