Arias Sánchez, LEA AG, Volkow P, Zavala GC

Language: Spanish
References: 16
Page: 129-133
PDF size: 48.23 Kb.

ABSTRACT

The Shwachman-Diamond syndrome is a rare disorder. It consists of a combination of exocrine pancreatic insufficiency, bone marrow failure and metaphyseal dysostosis. The locus of this disease has been recently mapped in the chromosome 7. The principal causes of morbidity and mortality are related to recurrent infections and the hematological conversion of the disease to a malignant myeloid disease. The projected median survival of Shwachman-Diamond syndrome patients is 35 years. Treatment consists of life-long pancreatic enzymes reposition, supportive care, and nowadays, hematopoietic stem cell transplantation.

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