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A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Jeong Hee | - |
dc.contributor.author | Bae, Sun Hwan | - |
dc.contributor.author | Yu, Jeong Jin | - |
dc.contributor.author | Lee, Ran | - |
dc.contributor.author | Yun, Yeo Min | - |
dc.contributor.author | Song, Eun Young | - |
dc.date.accessioned | 2010-04-13T04:53:41Z | - |
dc.date.available | 2010-04-13T04:53:41Z | - |
dc.date.issued | 2008-02-28 | - |
dc.identifier.citation | J Korean Med Sci. 2008 Feb;23(1):142-5. | en |
dc.identifier.issn | 1011-8934 (Print) | - |
dc.identifier.issn | 1011-8934 (Linking) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18303216 | - |
dc.identifier.uri | http://synapse.koreamed.org/Synapse/Data/PDFData/0063JKMS/jkms-23-142.pdf | - |
dc.identifier.uri | https://hdl.handle.net/10371/63102 | - |
dc.description.abstract | 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 countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea. | en |
dc.language.iso | en | en |
dc.publisher | Korean Academy of Medical Science | en |
dc.subject | Child, Preschool | en |
dc.subject | Dental Caries/*genetics | en |
dc.subject | Dysostoses/*genetics | en |
dc.subject | Exocrine Pancreatic Insufficiency/*genetics | en |
dc.subject | Female | en |
dc.subject | Humans | en |
dc.subject | Neutropenia/*genetics | en |
dc.subject | Pedigree | en |
dc.subject | Syndrome | en |
dc.subject | Mutation | - |
dc.title | A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 이정희 | - |
dc.contributor.AlternativeAuthor | 배선환 | - |
dc.contributor.AlternativeAuthor | 유정진 | - |
dc.contributor.AlternativeAuthor | 이란 | - |
dc.contributor.AlternativeAuthor | 윤여민 | - |
dc.contributor.AlternativeAuthor | 송은영 | - |
dc.identifier.doi | 10.3346/jkms.2008.23.1.142 | - |
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