Rodney D. Gilbert's research while affiliated with University of Southampton and other places

... Hence, recent research has focused on the relationship between CKD and more sensitive markers of cardiac function, including novel echocardiographic measures and cardiac magnetic resonance imaging. The 4C and the Hypertension Optimal Treatment in Children With Chronic Kidney Disease Study (HOT-KID) studies recently combined data investigating the first-phase ejection fraction (EF1) as a marker of early systolic function among 321 children with CKD (stages 1 to 5, not on dialysis) compared to 63 controls [56]. These demonstrated a significant reduction in EF1 among children with CKD and a positive correlation between eGFR and EF1. ...

... NPHP1 encodes for the protein Nephrocystin 1 that was initially discovered to be localized to the primary cilia and apical surface of kidney epithelial cells and interacts with molecules that take part in cell adhesion, signalling and maintenance 65 . NPHP1 has been associated to kidney disease (nephronophthisis) caused due to autosomal recessive whole gene deletions resulting in abnormal structure and function of primary cilia 66 . In nephronophthisis patients, cardiac defects like septal and aortic valve anomalies have also been reported 67 . ...

... Primary forms of adult MCD and FSGS present with a similar extent of proteinuria, but often exhibit a different disease course with immediate steroid response in MCD and a slower/absent response in FSGS. Activation of protease activated receptor 1 (PAR-1) [2 ], a podocyte membrane protein, has been suggested as a key initiator of the presumed circulating soluble factor, responsible to initiate FSGS. There is emerging evidence that a subset of patients with MCD have autoantibodies against podocyte proteins (for example, nephrin), providing potential links between podocyte injury, autoimmunity, and proteinuria response to anti-B-cell treatment [3 ]. ...

... Patients with a pathogenic CD46 variant combined with another variant in either CFH, C3, CFI or CFB are at a higher risk of a severe course of aHUS and development of end-stage renal disease than those with a CD46 gene variant alone (8). There may also be additional risk factors that play an important role in inducing aHUS: there are cases of aHUS in patients without any pathogenic variants, and incomplete penetrance even in the presence of more than one genetic variant (9). ...

... The authors suggest that a target of SBP close to 50th pct optimally regresses LVM. 36 LVH induced by arterial hypertension is the consequence of pressure overload. Whether SBP or DBP is more important remains a matter of debate. ...

... 5 A recent study identified 5 monoallelic pathogenic variants in the ALG5 gene encoding ALG5 protein as a cause of ADPKD, with a phenotype including nonenlarged cystic kidneys, minimal liver cysts, and lateonset CKD progression to ESKD. 6 In vitro studies identified that ALG5 dysfunction results in reduced efficiency of protein glycosylation, compromising the maturation and trafficking of PC1. 6 In this study, we describe 2 distant genetically related multiplex Irish families with nonenlarged polycystic kidneys and tubulointerstitial fibrosis caused by a novel monoallelic ALG5 variant and characterize its clinical, histopathologic, protein structural, and functional correlates. In addition, we show abnormalities in trafficking of uromodulin, another Nlinked glycoprotein involved in the development of CKD. ...

... However results from a large RCT with 271 children evaluated found that giving 6 days of daily low-dose prednisolone at the time of an URTI did not reduce the risk of relapse of nephrotic syndrome in children in the United Kingdom (237). Asthma triggered relapse of nephrotic syndrome is benefitted by rescue dose of prednisolone 1-2 mg/kg/day for 2-4days. ...

... Frequently relapsing nephrotic syndrome is the most common sub- respectively and an increased incidence of relapses in the future [4,12]. A recent study from India by Sinha., et al. [13] prednisone is administered for 5-7 days at the onset of an upper respiratory infection [18]. However, Biswas BK [7] described that infection is an important cause of relapse, and Gulati., et al. [8] stated that asymptomatic UTI might be an important and underdiagnosed cause of relapse. ...

... It is characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss, developmental delay, and low molecular weight proteinuria (retinal-binding protein and vitamin D-binding protein are mainly elevated in urine). Only about 62 individuals worldwide to date with distinct DBS features have been reported in the medical literatures and there are no other population-based incidences or prevalence data (Avunduk et al., 2000;Chassaing et al., 2003;Kantarci and Donahoe, 2007;Patel et al., 2007;Kantarci et al., 2008;Shaheen et al., 2010;Bruce et al., 2011;Chinta et al., 2011;Roane et al., 2012;Storm et al., 2013;Schrauwen et al., 2014;Dachy et al., 2015;Khalifa et al., 2015;Anglani et al., 2018;Khan and Ghazi, 2018;Longoni et al., 2018;Canut et al., 2020;Flemming et al., 2020;Ozdemir et al., 2020;Aksenova et al., 2021;Dumitrescu et al., 2021;Higham et al., 2021;Robinson et al., 2021;Sait et al., 2021;Alyousef et al., 2022). An increasing number of studies Kantarci et al., 2008;Shaheen et al., 2010;Storm et al., 2013;Schrauwen et al., 2014;Khalifa et al., 2015;Anglani et al., 2018;Flemming et al., 2020;Ozdemir et al., 2020;Aksenova et al., 2021;Higham et al., 2021) have found that DBS is caused by variations in the LRP2 gene, which locates on chromosome 2q24-31 and encodes the megalin protein, a multiligand endocytic receptor that plays an important role in retinal and renal tissues by mediating endocytic uptake and clearance of sonic hedgehog in the retinal margin and by mediating renal uptake of the antiapoptotic protein survivin (Jobst-Schwan et al., 2013;Christ et al., 2015). ...

... Clonal hematopoiesis (CH) may represent an opportunity to track disease progression: although not well-documented in WS or BS, it can be potentiated by genetic instability, and can confer an elevated risk of cancer and other clinically important cardiovascular, metabolic and endocrine diseases that contribute to excess or premature morbidity and mortality in WS and BS [99][100][101][102]. CH is one example of somatic mosaicism that is more widespread than initially appreciated and may serve as a reservoir of somatic genetic variation, driving or predisposing people to a wide range of developmental and acquired late phenotypes and disease risks. ...