Impact of CYP3A4/5 and ABCB1 polymorphisms on tacrolimus exposure and response in pediatric primary nephrotic syndrome

Pharmacogenomics,Volume 20, Issue 15, Page 1071-1083, October 2019.
Source: Future Medicine: Pharmacogenomics - Category: Genetics & Stem Cells Authors: Source Type: research

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We report the rare case of a patient co-existing NS and DLBCL. DLBCL might be pathogenesis of NS; the findings are supported by the presence of MN, an underlying malignancy (DLBCL), and the lack of anti-PLA2R antibodies. Although further investigation is warranted, our case suggests that DLBCL is a possible cause of secondary MN. PMID: 33028760 [PubMed - in process]
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
Membranous lupus nephritis is a frequent cause of nephrotic syndrome in patients with systemic lupus erythematosus. It has been shown in phospholipase A2 receptor positive membranous; nephropathy that known antibodies can be detected within sera, determination of the target; autoantigen can have diagnostic significance, inform prognosis, and enable non-invasive; monitoring of disease activity. Here we utilized mass spectrometry for antigen discovery in laser; captured microdissected glomeruli from formalin-fixed paraffin embedded tissue and tissue; protein G immunoprecipitation studies to interrogate immune complexes from ...
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: clinical investigation Source Type: research
Abstract AarF domain containing kinase 4 (ADCK4) is identified as a candidate gene associated with hereditary nephrotic syndrome (NS). Kruppel-like factor 5 (KLF5) is reported to promote podocyte survival by blocking the ERK/p38 MAPK pathways. Both ADCK4 and KLF5 are involved in the occurrence and development of podocyte disease, but their interaction remains unclear. Firstly, we found that the mRNA levels of ADCK4 and KLF5 decreased in NS patients, and both levels showed an obvious linear relationship. Secondly, we cloned the ADCK4 promoter region and examined its promoter activity in Hela, A549, and HEK 293 cell...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
AbstractSteroid ‐resistant nephrotic syndrome (SRNS) is a clinical challenge with variable clinical outcomes. In patients with SRNS, unsuccessful anti‐inflammatory and anti‐proteinuric effects of steroids lead to end‐stage renal disease (ESRD). Our objective was to define the expression pattern of the gluco corticoid receptors (GR) α and β and their epigenetic regulators (miR‐24, miR‐30a, and miR‐370) in a group of adults with SRNS. In this regard, sixty primary NS patients with focal segmental glomerulosclerosis (FSGS,N = 30) and membranous glomerulonephritis (MGN,N = 3...
Source: BioFactors - Category: Biochemistry Authors: Tags: Research Communication Source Type: research
Abstract Membranous nephropathy (MN) is a common cause of nephrotic syndrome in adults. The disease is induced by antibodies, which are directed against the podocyte protein phospholipase A2 receptor 1 (PLA2R1-ab) in 80% of cases. B cell depleting treatments, most notably rituximab, a chimeric CD20-antibody, are often effective for treatment of MN. However, in 35-40% of patients rituximab fails to induce remission of disease and relapses after rituximab-induced remission are frequent. Therefore, alternative treatment options are necessary. Over the past years optimized antibodies targeting CD20 were designed to ov...
Source: Journal of Nephrology - Category: Urology & Nephrology Authors: Tags: J Nephrol Source Type: research
In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
Source: Clinical and Experimental Nephrology - Category: Urology & Nephrology Source Type: research
Purpose of review Patients who develop chronic kidney disease at an early age, or from an uncertain cause, may benefit from genomic sequencing approaches to define causative mutations and inform subsequent management. Recent findings Whole-exome sequencing has been used to investigate the molecular genetic variants associated with chronic kidney disease in both specific phenotypes such as steroid-resistant nephrotic syndrome, and in large cohorts of patients not selected for a certain diagnosis. These studies have shown that whole-exome sequencing is able to find a genetic variant in a significant number of patients. ...
Source: Current Opinion in Nephrology and Hypertension - Category: Urology & Nephrology Tags: DIAGNOSTICS AND TECHNIQUES: Edited by Maarten W. Taal Source Type: research
Authors: Kaur J, Deepthi B, Dhull RS, Faruq MD, Saha A Abstract Infantile nephrotic syndrome is a rare disorder which is frequently caused by genetic defects. A 7-month-old girl presented with fever, loose stools and anasarca and was diagnosed with nephrotic syndrome. Work-up for a genetic cause was negative. Cytomegalovirus polymerase chain reaction (CMV PCR) was positive and the infant was treated with ganciclovir for 6 weeks, followed by valganciclovir for 10 weeks. All symptoms resolved within 2 weeks of commencing treatment and she attained complete remission within 4 weeks. CMV PCR was neg...
Source: Paediatrics and international child health - Category: Pediatrics Tags: Paediatr Int Child Health Source Type: research
Minimal change disease (MCD) is one of the causes of idiopathic nephrotic syndrome in adults. The pathogenesis of proteinuria in MCD has not been fully understood. Recently, it has been reported that the recep...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
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