ArticleJournal of Korean medical science2008
A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.
Article in Journal of Korean medical science, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.Cell & bioscience · 2020Article
- Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.Leukemia research reports · 2018Article
- The Clinical Implications of Fatty Pancreas: A Concise Review.Digestive diseases and sciences · 2017Review
- Non-Alcoholic Fatty Pancreatic Disease: A Review of Literature.Gastroenterology research · 2016Review
- Exploring the metabolic syndrome: Nonalcoholic fatty pancreas disease.World journal of gastroenterology · 2016Review
- Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.Annals of laboratory medicine · 2015Article
- The clinical significance of pancreatic steatosis.Nature reviews. Gastroenterology & hepatology · 2011Review
- Extended Review and Updates of Nonalcoholic Fatty Pancreas Disease.Saudi journal of medicine & medical sciencesReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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