Journal of Nephrology最新文献

Background: Fabry disease is a rare genetic lysosomal storage disorder, whereby the accumulation of sphingolipids consequently leads to kidney structural damage and dysfunction. We explored the epidemiology of chronic kidney disease (CKD) among patients with Fabry disease at a major UK referral centre in Greater Manchester serving over 7 million people, to inform early predictors of kidney disease and possible treatment planning.

Methods: Data were sourced from the electronic records of registered participants from November 2020 to February 2022 of adults diagnosed with Fabry disease, with at least 1 year of follow-up. Four hundred and five participants (female = 223, male = 182) met the initial eligibility criteria. Our study focused on identifying factors linked to incident CKD, with 395 evaluable individuals undergoing outcome analysis over a median of 6.4 years.

Results: Findings concluded that 60.5% of participants received disease-modifying treatments, 29.7% experienced non-fatal cardiovascular events, 3.3% developed end-stage kidney disease (ESKD), and 7.3% died. Men had higher use of disease modifying therapy, progression to ESKD requiring kidney replacement therapy, cardiovascular events, and mortality compared to women. Subgroup analysis over 9 years revealed that older age, cardiovascular history, renin-angiotensin-aldosterone system inhibitor use, and higher urine albumin-to-creatinine ratio (uACR) were predictors of faster estimated glomerular filtration rate (eGFR) decline and increased mortality. At baseline, 47.8% of 249 patients with uACR data had CKD, and 25.4% of the remaining individuals developed CKD during follow-up, associated with higher uACR and lower, albeit normal eGFR levels.

Conclusion: Over 60% of Fabry disease patients are at lifetime risk of developing CKD, with a substantial risk of mortality, even with initially normal uACR and eGFR values.

Background: About 4-7% of renal biopsies show a monoclonal gammopathy-related nephropathy, such as AL amyloidosis, cast nephropathy, or light chain deposition disease. Both a high prevalence and a causal role of monoclonal gammopathy have been observed in patients with C3 glomerulopathy or thrombotic microangiopathy, although a definitive causative role cannot be established in most cases (potentially monoclonal gammopathy-related nephropathies). A coexisting monoclonal gammopathy has been identified in many cases of nephropathy without a defined causative role (monoclonal gammopathy-unrelated nephropathies). The aim of this study was to investigate the prevalence and distribution of monoclonal gammopathy in patients who underwent a renal biopsy and assess its possible causal role in nephropathies not ordinarily related to monoclonal gammopathy.

Methods: In our single-center retrospective observational study, we considered patients who underwent native kidney biopsy from 2009 to 2023 at the Nephrology Unit, Careggi University Hospital, Florence (Italy) and for whom a complete monoclonal gammopathy workup (serum electrophoresis, serum and urinary immunofixation, serum free light chains) was available.

Results: Overall, 827 patients were included: 208 (25%) had a monoclonal gammopathy: in 104 cases the monoclonal gammopathy was unrelated to the kidney disease; 87 subjects showed renal pathology related to monoclonal gammopathy (monoclonal gammopathy-related nephropathies). Patients with thrombotic microangiopathy and C3 glomerulopathy (potentially monoclonal gammopathy-related nephropathies) exhibited a prevalence of monoclonal gammopathy > 30%. In a subgroup of diagnoses (e.g. tubulointerstitial nephritis, membranoproliferative glomerulonephritis) a possible causal and/or prognostic role of a concomitant monoclonal gammopathy may be hypothesized.

Conclusions: In our cohort, one fourth of patients undergoing a renal biopsy had a monoclonal gammopathy, although in half of them the monoclonal gammopathy did not have a causative role in the kidney disease. Hence, it is impossible to conclude that a monoclonal gammopathy in the context of renal disease equates to a causal association without performing a renal biopsy because of the high frequency of monoclonal gammopathy in patients undergoing a kidney biopsy.

Background: Chronic kidney disease (CKD) is associated with several adverse cardiovascular outcomes, including coronary heart disease, heart failure, and arrhythmias. The severity of arterial calcifications predicts the risk of coronary heart disease and increases the risk of premature cardiovascular death. In experimental models, vitamin K1 supplementation appears to reduce coronary artery calcifications.

Methods: In this single-center clinical trial (NCT04247087 on 07/09/2019), we randomized 60 Mexican patients on chronic hemodialysis and a coronary calcification score > 10 Agatston units to receive 10 mg intravenous vitamin K1 or placebo at the end of the hemodialysis session thrice weekly for 12 months. The primary outcome was the progression of coronary artery calcifications as assessed by the absolute change in Agatston and coronary calcium volume scores.

Results: The baseline coronary calcium score was 112.50 (14-2027) Agatston units in the vitamin K1 group and  177 (10-2843); Agatston units in the placebo group (p = 0.71), and after 12 months, the coronary calcium score in the vitamin K1 group was 78.50 (10-1915)  Agatston units in the vitamin K1 group versus  344 (10-3323); Agatston units (p = 0.05) in the placebo group. Progression of coronary calcification was 20.8% in the vitamin K1 group versus 44% in the placebo group, with a relative risk (RR) of 0.45 (CI 95% 0.18-1.15).

Conclusions: In the Mexican hemodialysis cohort enrolled in this study intravenous vitamin K1 supplementation reduced the progression of coronary artery calcifications by 55% compared with placebo over a 12-month follow-up period.