The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review
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Dosyalar
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Shwachman-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.
Açıklama
Anahtar Kelimeler
Kaynak
Trends in pediatrics
WoS Q Değeri
N/A
Scopus Q Değeri
N/A
Cilt
3
Sayı
1
Künye
ATES 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.2022.73645
