Nalan KARABAYIR, Servet Erdal ADAL, Arzu AKÇAY, Türkan UYGUR

Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası

Shwachman Diamond sendromu SDS kemik iliği disfonk- siyonu, ekzokrin pankreas yetersizliği, büyüme gelişme geriliği ve iskelet anomalileri ile karakterize otozomal resesif geçişli ender bir hastalıktır. Fanconi anemisi ve Diamond-Blacfan anemisinden sonra 3. sıklıkta görülen konjenital kemik iliği yetersizliği olan SDS 1/75000 sıklı- ğında saptanmaktadır. Tanı genellikle erken çocukluk döneminde ortaya çıkan hematolojik bozukluklarla konur. Bu makalede yenidoğan döneminde Shwacman-Diamond sendromu SDS tanısı konan ve yüksek doz G- CSF veril- mesine rağmen, nötropenisi persiste eden bir yenidoğan vakası sunulmuştur

Anahtar Kelimeler:

Kemik iliği yetersizliği, Shwachman Diamond sendromu, yenidoğan

A Case of Shwachman Diamond Syndrome in Neonate

Shwachman Diamond Syndrome SDS is a rare autosomal recessive disease characterized with bone marrow dysfunc- tion, exocrine pancreatic insufficiency, growth and deve- lopmental delay and skeletal abnormalities. The condition which is recognized as a bone marrow failure ranks at the 3rd row of a disease which is frequently seen after Fanconi anemia and Diamond-Blackfan anemia and it’s incidence is nearly 1/75000. Usually, diagnosis is possible at early childhood due to hematological disorders. In this article, a newborn diagnosed with Shwachman-Diamond Syndrome SDS and having persisting neutropenia is presented

Keywords:

Newborn, bone marrow failure, Shwachman Diamond syndrome,

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