Background/Aim: Our aim was to investigate the effect of on-line HDF versus high-flux (HF) hemodialysis (HD) on a patient's health-related satisfaction level. Methods: Overall, 72 patients, on regular low-flux HD for 51 ± 26 month mean age of 54 ± 12 years, were randomized to HF (group 1, n = 36) and to HDF (group 2, n = 36) and followed up for 24 months. Assessment was based on the patient's satisfaction level using modified questionnaires of the validated Kidney Disease Quality of Life-Short Form (KDQOL-SF) version 1.3. Results: The HDF group achieved a higher satisfaction level than the HF group (p < 0.0001) with less cramps (3 ± 5 vs. 55 ± 8), itching (9 ± 10 vs. 48 ± 10), joint pain and stiffness (24 ± 10 vs. 83 ± 8), and improvement in general mood (94 ± 9 vs. 28 ± 16), sexual performance (57 ± 10 vs. 5 ± 5), and social activity (82 ± 9 vs. 15 ± 8). Conclusion: High-efficiency postdilution on-line HDF versus high-flux HD significantly improved patients' satisfaction and quality of life, including social, physical, and professional activities.

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PurposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.MethodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.ResultsWe identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant AGR2 transcripts caused by an intronic variant and complete absence of AGR2 transcripts caused by the large gene deletion, resulting in loss of function (LoF). Furthermore, transcriptome analysis identified significant downregulation of components of the mucociliary machinery (intraciliary transport, cilium organisation), as well as upregulation of immune processes.ConclusionWe describe a previously unrecognised autosomal recessive disorder caused by AGR2 variants. AGR2-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets.

Vascular access (VA) is the lifeline for patients with end-stage renal disease on regular hemodialysis (HD). Tunneled catheters have been associated with increased risk of luminal thrombosis, infection, hospitalization, and high cost. Our aims were to follow the "Fistula First Initiative," avoid or reduce the rate of catheter insertion, improve the rate of arteriovenous fistula (AVF) use, and study the effect of increased AVF use on quality of dialysis and patient's outcome. A VA program has been established in collaboration with an enthusiastic and professional vascular surgery team to manage 358 patients who have been on regular HD treatment for a period ranging from 1 to 252 months. The mean ± standard deviation age of patients was 52 ± 15 years with 62% male patients. Over a period of 2 years, 408 procedures were performed. These include 293 AVFs and 56 arteriovenous grafts (AVGs). Other procedures include 39 permanent catheter insertions, 8 AVF aneurysmectomy, removal of 6 AVGs, embolectomy of 4 AVGs, excision of 1 AVG lymphocele, and ligation of 1 AVF. This program resulted in significant increase in AVF rate from 35% to 82%; reduction in catheter rate from 62% to 10.9%; infection rate down from 6.6% to 0.6%; VA clotting down from 5.1% to 1.0%; and increase in average blood flow rate from 214 ± 32 to 298 ± 37 mL/min (P < 0.01). These results have been associated with improved average single pool Kt/V from 0.88 ± 0.19 to 1.28 ± 0.2 (P < 0.01); increased hemoglobin from 9.2 ± 1.2 to 10.9 ± 0.9 g/dL (P < 0.01); improved serum albumin from 3.2 ± 0.5 to 3.7 ± 0.4 g/dL (P < 0.05); reduction in administered erythropoietin dose by 19%; and significant drop in hospitalization rate from 6.1% to 3.8%. These results confirm the great benefits of AVF on quality of HD and patient outcome, and clearly affirm that AVF should always be considered first.

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