A condition mainly caused by recessive changes in SBDS, and less often in EFL1 or other genes, featuring neutropenia, exocrine pancreatic insufficiency and skeletal changes, with an increased risk of bone marrow failure, myelodysplastic syndrome and acute myeloid leukaemia.
Mit változtat a diagnózis
A diagnosis allows pancreatic enzyme replacement and regular blood and bone marrow monitoring, and guides donor choice if stem cell transplantation is needed.
Más néven
congenital lipomatosis of pancreas; pancreatic insufficiency and bone marrow dysfunction; Schwachman-Diamond syndrome; Schwachmann-Diamond syndrome; SDS; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- DNAJC21-related Shwachman Diamond syndrome
- Shwachman-Diamond syndrome 1
- Shwachman-Diamond syndrome 2
