Clinical manifestations and care of patients with SDS
| Hematologic | |
| Peripheral blood cytopenias | CBC with differential |
| Reticulocyte count | |
| BMF | Bone marrow aspirate and biopsy |
| Immunophenotypic analysis by flow cytometry | |
| Conventional karyotype and FISH | |
| Somatic myeloid NGS panel | |
| MDS/AML | Cytoreductive therapy as clinically indicated |
| HLA-typing and evaluation for stem cell transplant as indicated | |
| Immune dysregulation | Serum immunoglobulins (IgG, IgM, IgA, IgE) |
| Lymphocyte subsets (T-cell subsets, B cells, natural killer cells) | |
| Coagulopathy | Prothrombin time |
| Nonhematologic | |
| Exocrine pancreatic dysfunction | Serum pancreatic isoamylase |
| Fecal elastase | |
| Serum levels of vitamins A, D, E, and K, copper, and selenium | |
| Pancreatic enzyme supplementation | |
| Osteopenia/osteoporosis | Consultation with endocrinology as indicated |
| Short stature | Assessment of age-adjusted growth |
| Skeletal abnormalities | Consultation with orthopedics as indicated |
| Cognitive delay | Neurocognitive evaluation as indicated |
| Neurobehavioral conditions | Consultation with behavioral specialist or psychiatry as indicated |
| Genetics | |
| Germ line genetic testing | Consultation with experts in SDS genetics |
| Inherited BMF gene panelincluding SBDS, EFL1, DNAJC21, SRP54 |
| Hematologic | |
| Peripheral blood cytopenias | CBC with differential |
| Reticulocyte count | |
| BMF | Bone marrow aspirate and biopsy |
| Immunophenotypic analysis by flow cytometry | |
| Conventional karyotype and FISH | |
| Somatic myeloid NGS panel | |
| MDS/AML | Cytoreductive therapy as clinically indicated |
| HLA-typing and evaluation for stem cell transplant as indicated | |
| Immune dysregulation | Serum immunoglobulins (IgG, IgM, IgA, IgE) |
| Lymphocyte subsets (T-cell subsets, B cells, natural killer cells) | |
| Coagulopathy | Prothrombin time |
| Nonhematologic | |
| Exocrine pancreatic dysfunction | Serum pancreatic isoamylase |
| Fecal elastase | |
| Serum levels of vitamins A, D, E, and K, copper, and selenium | |
| Pancreatic enzyme supplementation | |
| Osteopenia/osteoporosis | Consultation with endocrinology as indicated |
| Short stature | Assessment of age-adjusted growth |
| Skeletal abnormalities | Consultation with orthopedics as indicated |
| Cognitive delay | Neurocognitive evaluation as indicated |
| Neurobehavioral conditions | Consultation with behavioral specialist or psychiatry as indicated |
| Genetics | |
| Germ line genetic testing | Consultation with experts in SDS genetics |
| Inherited BMF gene panelincluding SBDS, EFL1, DNAJC21, SRP54 |
CBC, complete blood count; HLA, human leukocyte antigen.