The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review

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dc.contributor.authorÇelik Ateş, Dilvin
dc.contributor.authorAkyay, Arzu
dc.contributor.authorHaskoloğlu, Zehra Şule
dc.contributor.authorÖzgen, Ünsal
dc.date.accessioned2022-12-19T12:10:07Z
dc.date.available2022-12-19T12:10:07Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
dc.description.abstractShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by bone marrow dysfunction, exocrine pancreatic insufficiency and skeletal abnormalities. Persistent or intermittent neutropenia caused by bone marrow hypoplasia is the most common hematological abnormality in SDS. It can be difficult to diagnose the disease that usually occurs in early childhood. SDS should be kept in mind in the differential diagnosis of neutropenic patients. If the signs of pancreatic insufficiency are not observed, the diagnosis may be missed. The article wanted to present a patient with pancreatic insufficiency and SDS with the biallelic mutation who presented with neutropenia in a newborn.en_US
dc.identifier.citationATES D, AKYAY A, HASKALOĞLU Ş, ÖZGEN Ü (2022). The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review. Trends in pediatrics, 3(1), 26 - 29. 10.4274/TP.2022.73645en_US
dc.identifier.doi10.4274/TP.2022.73645en_US
dc.identifier.endpage29en_US
dc.identifier.issn2792-0429
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85162768622en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage26en_US
dc.identifier.trdizinid533498en_US
dc.identifier.urihttps://doi.org/10.4274/TP.2022.73645
dc.identifier.urihttps://hdl.handle.net/11616/85855
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/533498
dc.identifier.volume3en_US
dc.identifier.wosWOS:001208367300002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofTrends in pediatricsen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleThe Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Reviewen_US
dc.typeArticleen_US

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