A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations
Conclusion: This is the first report to characterize mutations in theCLCN5 gene in Iranian patients with Dent ’s disease and expands the spectrum ofCLCN5 mutations by reporting two novel mutations, c.1241_1242dupAA and c.805-2A#x3e;G.Nephron (Source: Nephron)
Source: Nephron - January 16, 2023 Category: Urology & Nephrology Source Type: research
Proceedings of the 12th Annual UAB-UCSD O ’Brien Center Symposium: Changing Paradigms in Acute Kidney Injury – From Mechanisms to Management
Nephron (Source: Nephron)
Source: Nephron - January 12, 2023 Category: Urology & Nephrology Source Type: research
Nonalcoholic Fatty Liver Disease in Patients with Type 2 Diabetes and Chronic Kidney Disease
Conclusion: These findings do not support any association between NAFLD and CKD (stages 3 –5) in patients with type 2 diabetes.Nephron (Source: Nephron)
Source: Nephron - January 11, 2023 Category: Urology & Nephrology Source Type: research
CYP3A5 Expressor Genotype of the Transplanted Kidney Increases the Risk of Preterm Graft Loss and Acute Rejection
Conclusions: Donor CYP3A5 expressor status is associated with worse renal graft survival and a higher risk of acute rejection. Determination of donorCYP3A5 genotype is a potentially useful tool that may improve kidney transplant outcomes.Nephron (Source: Nephron)
Source: Nephron - January 11, 2023 Category: Urology & Nephrology Source Type: research
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature
We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.Nephron (Source: Nephron)
Source: Nephron - January 6, 2023 Category: Urology & Nephrology Source Type: research
Humoral Response to BNT162b2 and CoronaVac in Patients Undergoing Maintenance Hemodialysis: A Multicenter Prospective Cohort Study
Conclusions: BNT162b2 and CoronaVac induced humoral responses in na ïve patients undergoing MHD, which were more robust and durable for 3 months after BNT162b2. Both vaccines created high antibody levels in patients who were seropositive at baseline.Nephron (Source: Nephron)
Source: Nephron - January 5, 2023 Category: Urology & Nephrology Source Type: research
Racial and Ethnic Differences in Chronic Kidney Disease and Its Risk Factors among Asian-Americans and Pacific Islanders in Hawaii
Conclusions: In this community-based cohort, compared with Whites, Asian-Americans had a higher risk of early CKD indicators, whereas NHOPIs had a higher risk of more severe CKD indicators. Further studies are needed to elucidate the distinct pathways leading to CKD across diverse racial/ethnic groups in Hawaii.Nephron (Source: Nephron)
Source: Nephron - January 5, 2023 Category: Urology & Nephrology Source Type: research
A Novel Role of Semaphorin 3C in Modulating Systemic and Renal Hemodynamics
Conclusion: SEMA3C is a potent vasodilator affecting both systemic and renal hemodynamics in mice.Nephron (Source: Nephron)
Source: Nephron - December 29, 2022 Category: Urology & Nephrology Source Type: research
Neuronal Proteins as Antigenic Targets in Membranous Nephropathy
Context: The discovery of new target antigens in membranous nephropathy (MN) has revealed new disease phenotypes and, in some cases, has suggested mechanisms of disease shared by two concurrent autoimmune diseases.Subject of Review: Several recent reports and an accompanying editorial describe the association of anti-contactin-1 (CNTN1) autoantibodies of the IgG4 subclass with a novel subtype of MN that co-occurs with a form of chronic inflammatory demyelinating polyradiculoneuropathy caused by anti-CNTN1 antibodies. CNTN1, the cellular source of which is still undetermined, is identified as the target antigen in the kidne...
Source: Nephron - December 29, 2022 Category: Urology & Nephrology Source Type: research
Haemolytic Uremic Syndrome: A Study Cohort over 10-Year Period in a Paediatric Tertiary Centre Hospital
Conclusions: HUS is a multifactorial disease mostly affecting children between 3 and 5 years old. Hypertension, leucocytosis, hypocomplementemia, thrombocytopenia, increased renal function indices, and extrarenal manifestations are risk factors for the worst outcome.Nephron (Source: Nephron)
Source: Nephron - December 21, 2022 Category: Urology & Nephrology Source Type: research
Renal Histology in CKD Stages: Match or Mismatch with Glomerular Filtration Rate?
A reliable assessment of renal function is of paramount importance in several clinical assets in order to tailor a personalized medical approach. CKD classification system, created in 2002 by the National Kidney Foundation-sponsored Kidney Disease Outcomes Quality Initiative and then implemented in the following years by the K-DIGO guidelines, offered clinicians a new strategy to better identify nephrological patients at low or high risk to develop renal insufficiency, in order to avoid the progression to end-stage renal disease. However, the criteria used to create this classification did not consider some important aspec...
Source: Nephron - December 16, 2022 Category: Urology & Nephrology Source Type: research
Contents Vol. 146, 2022
Nephron 2022;146:I –X (Source: Nephron)
Source: Nephron - December 7, 2022 Category: Urology & Nephrology Source Type: research
Acknowledgement to Reviewers
Nephron 2022;146:652 –654 (Source: Nephron)
Source: Nephron - December 7, 2022 Category: Urology & Nephrology Source Type: research
Association of Sleep Duration with Physical Performance in Hemodialysis Patients: A Multicenter Cross-Sectional Study
Conclusion: HD patients with abnormal sleep duration had poorer physical performance. Short and long sleep duration were significantly associated with gait speed.Nephron (Source: Nephron)
Source: Nephron - November 29, 2022 Category: Urology & Nephrology Source Type: research
Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy
Conclusion: Concurrent thin basement membrane nephropathy and/or heterozygousCOL4A gene pathogenic variants do not necessarily predict the short-term progress of sporadic IgA nephropathy in adults. Predisposition factors for this disease progression should be considered for detecting the variants ofCOL4A and podocyte cytoskeleton and mitochondria-related genes simultaneously, which also manifests the complexity and heterogeneity of IgA nephropathy with concurrent thin basement membrane nephropathy.Nephron (Source: Nephron)
Source: Nephron - November 8, 2022 Category: Urology & Nephrology Source Type: research
