Nuclear medicine improves the sensitivity of conventional radiology when tumor site identification is problematic. OCT offers a good availability/reliability ratio, and FDG-PET was proven useful. 68Gallium-SSTR-PET/CT use was infrequent, despite offering the highest sensitivity.

Background: Depression is the most common psychiatric disorder in long-term dialysis patients and a risk factor for morbidity and mortality. Although there is a relevance of the issue in the dialysis setting, we still know little about possible relationships between depression and uraemia-related biochemical abnormalities. Our aims were to evaluate (1) the prevalence of depression in our haemodialysis (HD) and peritoneal dialysis (PD) population using a validated and easy-to-implement screening tool and (2) the association between depression and the main uraemia-related clinical and biochemical parameter changes. Methods: In this monocentric cross-sectional study, all patients of our centre with at least 3 months of dialysis were screened by Patient Health Questionnaire-9 (PHQ-9), a self-administered depression-screening questionnaire validated in dialysis setting. The impact of depressive symptoms on daily life was also assessed. We then analysed relationships between the PHQ-9-derived depressive score, functional impairment score, demographic, clinical and laboratory variables. Results: In our cohort of 145 patients, depressive symptoms were found in 69 patients (46%). Stratifying for severity, mild, moderate and severe grade accounted for 31, 13 and 2% respectively. Depressive symptoms affected 36% of patients on PD versus 52% of patients on HD. Moreover, the PD patients had significantly less functional impairment derived from depressive symptoms than the HD patients. Simple and multiple regression analysis identified serum phosphorus as the only uraemia-related laboratory parameter that was high statistically associated with depressive score. Conclusions: Using a reliable, simple and fast tool, we found that depressive symptoms affect almost half of dialysis patients, particularly so the HD cohort. Severity of depressive symptoms seems related to serum levels of phosphorus possibly because depression affects compliance to therapy.

Significance Statement To optimize the diagnosis of genetic kidney disorders in a cost-effective manner, we developed a workflow based on referral criteria for in-person evaluation at a tertiary center, whole-exome sequencing, reverse phenotyping, and multidisciplinary board analysis. This workflow reached a diagnostic rate of 67%, with 48% confirming and 19% modifying the suspected clinical diagnosis. We obtained a genetic diagnosis in 64% of children and 70% of adults. A modeled cost analysis demonstrated that early genetic testing saves 20% of costs per patient. Real cost analysis on a representative sample of 66 patients demonstrated an actual cost reduction of 41%. This workflow demonstrates feasibility, performance, and economic effect for the diagnosis of genetic kidney diseases in a real-world setting. Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic kidney disorders, but accessibility, interpretation of results, and costs limit use in daily practice. Methods Univariable analysis of a historical cohort of 392 patients who underwent WES for kidney diseases showed that resistance to treatments, familial history of kidney disease, extrarenal involvement, congenital abnormalities of the kidney and urinary tract and CKD stage ≥G2, two or more cysts per kidney on ultrasound, persistent hyperechoic kidneys or nephrocalcinosis on ultrasound, and persistent metabolic abnormalities were most predictive for genetic diagnosis. We prospectively applied these criteria to select patients in a network of nephrology centers, followed by centralized genetic diagnosis by WES, reverse phenotyping, and multidisciplinary board discussion. Results We applied this multistep workflow to 476 patients with eight clinical categories (podocytopathies, collagenopathies, CKD of unknown origin, tubulopathies, ciliopathies, congenital anomalies of the kidney and urinary tract, syndromic CKD, metabolic kidney disorders), obtaining genetic diagnosis for 319 of 476 patients (67.0%) (95% in 21 patients with disease onset during the fetal period or at birth, 64% in 298 pediatric patients, and 70% in 156 adult patients). The suspected clinical diagnosis was confirmed in 48% of the 476 patients and modified in 19%. A modeled cost analysis showed that application of this workflow saved 20% of costs per patient when performed at the beginning of the diagnostic process. Real cost analysis of 66 patients randomly selected from all categories showed actual cost reduction of 41%. Conclusions A diagnostic workflow for genetic kidney diseases that includes WES is cost-saving, especially if implemented early, and is feasible in a real-world setting. Podcast This article contains a podcast at https://dts.podtrac.com/redirect.mp3/www.asn-online.org/media/podcast/JASN/2023_04_03_JASN2022060725.mp3