Molecular Diagnosis of Shwachman-Diamond Syndrome Presenting with Pancytopenia at an Early Age: The First Report from Turkey |
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Authors: | Muge Gokce Murat Tuncer Mualla Cetin Fatma Gumruk |
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Affiliation: | Pediatric Hematology Division, Hacettepe Medical Faculty, Ihsan Dogramacı Children’s Hospital, Sıhhıye, Ankara, 06100 Turkey |
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Abstract: | A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings. The diagnosis was confirmed by sequence analysis for SBDS gene on chromosome seven revealing compound heterozygous mutation, which are c.258+2T-C and c.183-184TA-CT. Matched unrelated donor screening for hematopoietic stem cell transplantation was initiated. Unfortunately, he died of respiratory difficulty at 5 months of age. Our case is the youngest patient whose presumptive Shwachman-Diamond syndrome diagnosis was confirmed by molecular analysis. |
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Keywords: | Immune deficiency Pancytopenia Schwachman-Diamond Syndrome |
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