Bone marrow failure syndromes.

摘要: Laboratory diagnosis of inherited bone marrow failure syndromes includes general evaluations, such as blood counts, examination the peripheral smear for morphology, and aspirates biopsies, which may help clinician classify patient, particularly if there are no characteristic physical anomalies. Specific diagnoses require unique tests that only available a few diagnoses. The most useful is chromosome breakage in FA, with gene mutation analysis or mapping about to become gold standard when all FA genes have been cloned. DC remains clinical at this time, although linkage Xq28 skewed maternal X inactivation be helpful some families. proof SD provided by decreased serum trypsinogen other evidence exocrine pancreatic insufficiency. CHH substantiated absent central pigment hair found it mapped 9p21-p13. mitochondrial syndrome, PS, proved demonstration deleted DNA. RD diagnosed from studies demonstrate lack lymphoid well myeloid activity. Amega requires abnormal megakaryocytes; radii also absent, TAR. DBA usually has elevated red-cell ADA, locus map 19q13. KS patients who congenital nonimmune severe neutropenia. Clinical suspicion particular can often laboratory varying specificity.