Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. A variety of other congenital abnormalities may also occur in DBA. Signs and symptoms
Diamond–Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth delay are sometimes observed. DBA patients have a modest risk of developing leukemia and other malignancies. Genetics
Most pedigrees suggest an autosomal dominant mode of inheritance with incomplete penetrance. Approximately 10–25% of DBA occurs with a family history of disease. About 25-50% of the causes of DBA have been tied to abnormal ribosomal protein genes. The disease is characterized by genetic heterogeneity, affecting different ribosomal gene loci: Exceptions to this paradigm have been demonstrated, such as with rare mutations of transcription factor GATA1 and advanced alternative splicing of a gene involved in iron metabolism, SLC49A1 (FLVCR1).
11% of primary lung cancers (cancers that start in the lung) have cavities that can be seen on chest X-ray; 22% of primary lung cancers will have cavities on CT, which is more sensitive. Squamous-cell carcinoma of the lung is more likely to develop cavitations than lung adenocarcinoma or large-cell lung carcinoma. Other primary cancers of the lung, such as lymphoma and Kaposi’s sarcoma, can also cavitate, especially in people with AIDS. Lung cancers that develop cavities are associated with a poor prognosis (worse outcomes). Cancers that metastasize (spread) to the lung can also develop cavitations, but this is only seen about 4% of the time on X-ray. Metastatic cancers of squamous cell origin are also more likely to cavitate than cancers of other origins. Both chemotherapy (drugs to treat cancer) and radiofrequency ablation (destroying cancer with radio waves) can cause lung cancers to develop cavities, which is a sign of a good response to treatment. It is possible to have both an infection and lung cancer in the same cavity; the most common combination is primary lung cancer and tuberculosis. Autoimmune
Autoimmune causes of lung cavities include granulomatosis with polyangiitis, rheumatoid arthritis, and rarely necrotizing sarcoidosis (less than 1% of people with sarcoidosis develop lung cavities). Ankylosing spondylitis, eosinophilic granulomatosis with polyangiitis, and systemic lupus erythematous rarely cause lung cavities.