Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings.

Experiences of Unanticipated Outcomes Among Ethnically Diverse Living Kidney Donors: A Qualitative Pilot Study.

Introduction: Although living kidney donation is generally considered a safe procedure, it is ethically critical that prospective donors are fully informed before consent. However, prospective donors lack a deep understanding of the donation experience, making the postdonation aftermath feel unanticipated. We sought to gain in-depth qualitative descriptions of the short- and long-term risks and benefits associated with kidney donation among an ethnically diverse group of donors to offer a balanced view of the positive and negative experiences that may occur postdonation.

Calcium phosphate deposition, tertiary hyperparathyroidism, and the long-term effect on kidney allografts.

Background: Tertiary hyperparathyroidism adversely affects kidney allografts, with calcium phosphate deposition hypothesized to be an underlying cause. We analyzed allograft biopsies to investigate risk factors for calcium phosphate deposition and understand its impact on allograft function.

Methods: We reviewed patients who underwent kidney transplantation from 2017 to 2019.

Clinical manifestations, diagnosis and treatment of hereditary fibrinogen Aα-chain renal amyloidosis: one case report and systematic review.

Purpose: We reported a confirmed case of Fibrinogen Aa-chain (AFib) amyloidosis and conducted systematic review of the genetic and protein mutation types, clinical manifestations, diagnostic methods and treatment for patients with this disease worldwide.

Methods: We reported a case of AFib amyloidosis. Meanwhile, a systematic search was performed using defined terms and updated up to November 2023 in the Wanfang, China National Knowledge Infrastructure, VIP, PubMed, and Web of Science databases to identify reported cases of AFib renal amyloidosis worldwide, according to PRISMA guidelines.

Stenosis of the glomerulotubular neck in progressive chronic kidney disease.

Background: Morphology and morphometric evaluation of lesions beyond conventional parameters can inform the pathophysiology of chronic kidney disease (CKD). We sought to determine whether the occurrence of glomerulotubular neck stenoses associates with progressive CKD.

Methods: We evaluated the normal parenchyma from radical nephrectomies removed for tumor between 2000 and 2021 and analyzed cortex for stenoses of the glomerulotubular neck.

Mycobacterium avium inhibits protein kinase C and MARCKS phosphorylation in human cystic fibrosis and non-cystic fibrosis cells.

In cystic fibrosis (CF), there is abnormal translocation and function of the cystic fibrosis transmembrane conductance regulator (CFTR) and an upregulation of the epithelial sodium channel (ENaC). This leads to hyperabsorption of sodium and fluid from the airway, dehydrated mucus, and an increased risk of respiratory infections. In this study, we performed a proteomic assessment of differentially regulated proteins from CF and non-CF small airway epithelial cells (SAEC) that are sensitive to Mycobacterium avium.

SGLT2 Inhibitors and Their Effect on Urolithiasis: Current Evidence and Future Directions.

Urolithiasis (UL) is increasingly prevalent due to rising cardiorenometabolic diseases, posing significant management challenges despite advances in urological techniques. Sodium-glucose cotransporter-2 (SGLT2) inhibitors, primarily used for type 2 diabetes mellitus, chronic kidney disease, and heart failure, have emerged as a potential novel approach for UL treatment. These inhibitors may help reduce the risk of urolithiasis, particularly in patients with diabetes, by improving glycemic control and altering urinary chemistry, which are crucial factors in stone formation.

Implantable Cardioverter Defibrillators in Prevention of Sudden Cardiac Death in Kidney Transplant Recipients: A Case Series and an Appraisal of Current Evidence.

Cardiovascular diseases, including sudden cardiac death (SCD), are the leading cause of mortality among kidney transplant recipients (KTRs). While implantable cardioverter defibrillators (ICDs) are established for SCD prevention in the general population, data on the benefits in patients with CKD is scarce and controversial, and there is no established general consensus on their use in this group of patients. Furthermore, data for KTRs are lacking.

Interdisciplinary Management of Traumatic Injuries to the Kidneys and Urinary Tract Caused by Blunt Abdominopelvic Trauma.

Blunt abdominopelvic trauma frequently results in injuries to the urinary organs, especially in polytrauma. The urotrauma is rarely an acute life-threatening event; however, it may lead to severe complications. This review addresses the under-representation of urological trauma management in interdisciplinary medical training and its impact on patient outcomes.

Sudden Cardiac Death Reporting in US Patients on Dialysis: Comparison of United States Renal Data System and National Death Index Data.

Key Points: For patients with ESKD treated with hemodialysis, the causes of death reported by the United States Renal Data System and the National Death Index show substantial disagreement. In particular, the proportion of sudden cardiac death was almost two-fold higher in the United States Renal Data System (42%) compared with the National Death Index (22%).

Background: Cause-specific mortality data from the United States Renal Data System (USRDS) form the basis for identifying cardiovascular disease (CVD), specifically sudden cardiac death (SCD), as the leading cause of death for patients on dialysis.

Progress of nations in the organisation of, and structures for, kidney care delivery between 2019 and 2023: cross sectional survey in 148 countries.

Objective: To assess changes in key measures of kidney care using data reported in 2019 and 2023.

Design: Cross sectional survey in 148 countries.

Setting: Surveys from International Society of Nephrology Global Kidney Health Atlas between 2019 and 2023 that included participants from countries in Africa (n=36), Eastern and Central Europe (n=16), Latin America (n=18), the Middle East (n=11), Newly Independent States and Russia (n=10), North America and the Caribbean (n=8), North and East Asia (n=6), Oceania and South East Asia (n=15), South Asia (n=7), and Western Europe (n=21).

Early Complications in Kidney Donors and Course of Health-related Quality of Life 12 mo After Donation: An Analysis of the Swiss Organ Living-Donor Health Registry.

Background: Since 1998, the Swiss Organ Living-Donor Health Registry (SOL-DHR) has recorded peri- and postoperative complications of living kidney (LK) donors, as reported by all Swiss transplant centers and has collected follow-up data prospectively.

Methods: We analyzed the early complications of 2379 consecutive individuals who donated a kidney between January 1998 and June 2022 and assessed their health-related quality of life (HRQoL) 1 y after donation.

Results: In total, 447 early complications in 404/2379 LK donors (17.

Ravulizumab in adults and children with atypical hemolytic uremic syndrome: a plain language summary of three studies.

What Is This Summary About?: This summary gives an overview of three published articles that report the results of research studies of ravulizumab, an approved treatment for people with atypical hemolytic uremic syndrome (often shortened to aHUS). This is a rare and serious condition where blood clots form in small blood vessels. Blood vessels are structures that transport blood around the body.