Background Some patients referred for kidney transplant evaluation fail to attend the visit. Our goal was to compare demographic, socioeconomic, and psychological factors between evaluation visit attendees and absentees. Methods A convenience sample of patients referred and scheduled for kidney transplant evaluation at a single center from November 2012 to December 2013 participated in a phone survey reporting socioeconomic, demographic and clinical characteristics; health literacy; and perceived knowledge and concerns about transplantation. Absentees were matched by race with attendees. Analyses of differences between groups were performed with Chi-square, Fisher’s exact test, and t-tests. Multivariable logistic regression adjusted for relevant demographic characteristics. Results 104 adults participated (61% male, 46% Caucasian, 52±12 years). Financial concerns were the most prevalent (67.3% affording medication, 64.1% affording operation). Prior evaluation at a different transplant center (p=0.029) and being on dialysis (p=0.008) were significantly associated with absence. Attendance was associated with concerns about finding a living donor (p=0.038) and higher perceived general knowledge about transplantation (p ≤0.001). No differences were appreciated in demographic, socioeconomic or health literacy factors between groups. Conclusions Both attendee and absentee patients were most concerned with the financial burden of kidney transplantation. While concerns and perceived knowledge are important correlates of behavior, other considerations such as psychological factors and prior medical experiences may influence patients’ ability to complete the kidney transplant evaluation process. Although this pilot study was conducted in a small sample and has limited generalizability, our findings can guide future research.

BackgroundGATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but is associated with significant treatment related morbidity and mortality. Given the spectrum of clinical presentation, accurate diagnosis of GATA2 deficiency is necessary to identify patients early in their disease course when allogeneic bone marrow transplantation may be of clinical benefit.Case presentationIn this report, we present a GATA2 mutation diagnosed in 23-year-old woman presenting with pancytopenia, recurring oral blisters, fatigue and chronic pain. We describe markedly low levels of mature B-cells in the blood and bone marrow and the absence of detectable blood dendritic cells with normal serum immunoglobulin levels and normal numbers of marrow plasma cells. She was ultimately diagnosed with GATA2 haplo-insufficiency due to a GATA2 germ-line mutation and underwent a successful allogeneic bone marrow transplant from a 10/10 HLA matched unrelated donor.ConclusionsThe case illustrates the diagnostic difficulties in identifying GATA2 deficiencies and the importance of family history and genetic testing. GATA2 plays an important role in B-cell and dendritic cell development, and decreased numbers of those cells is a characteristic feature that should prompt consideration of GATA2 deficiency in a patient with pancytopenia. Maturation of B-cells to long-lived plasma cells is relatively unaffected in GATA2 deficiency. Allogeneic stem cell transplantation can correct immune-deficiencies and prevent leukemic transformation in patients with GATA2 deficiency.