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Mashup Score: 0Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila - 2 year(s) ago
Variants in TBC1D8B cause isolated nephrotic syndrome. TBC1D8B protein interacts with the slit diaphragm protein nephrin, but the pathogenesis remains unclear. We used Drosophila to elucidate the functional role of the recently discovered disease-causing gene. A null allele of Tbc1d8b in Drosophila exhibits a nephrocyte-restricted phenotype similar to patient presentation. Tbc1d8b protein…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 3Use of Rituximab in Childhood Idiopathic Nephrotic Syndrome - 2 year(s) ago
Rituximab is an established therapy in children with idiopathic nephrotic syndrome to sustain short to medium term disease remission and avoid steroid toxicities. Recent trials focus on its use as a first-line agent among those with milder disease severity. Rituximab is used in multi-drug refractory nephrotic syndrome and post-transplant disease recurrence, although the evidence is much less…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 1
Background and objectives CKD imposes a significant burden on patients and health care providers, particularly upon reaching kidney failure when patients may require KRT. The Dapagliflozin and Prevention of Adverse Outcomes in CKD (DAPA-CKD) trial demonstrated that dapagliflozin, with standard therapy, reduced CKD progression and KRT requirement. The study objective was to estimate the…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0
Thinned glomerular basement membrane (tGBM) lesions, usually associated with COL4A3 / COL4A4 / COL4A5 gene variants, are not uncommon in sporadic IgA nephropathy (IgAN), but the underlying mechanism is unclear. Exome sequence analysis of 122 patients with sporadic IgAN with tGBM lesions (IgAN-tGBM) identified diagnostic COL4A3 / COL4A4 / COL4A5 gene variants in 38 patients (31.1%), with 37…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0Reproductive Healthcare is a Key Component of Comprehensive Care for Adolescents with CKD - 2 year(s) ago
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Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0Management of Patients with Kidney Failure and Pericarditis - 2 year(s) ago
Diseases of the pericardium, including pericarditis, pericardial effusion, and tamponade, are common in patients with kidney failure, but there are limited data to guide management. We present a clinical case and our approach to managing these challenging clinical situations. A 23-year-old woman
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0Fibroblast Growth Factor-23 and Risk of Cardiovascular Diseases - 2 year(s) ago
Background: Fibroblast growth factor 23 (FGF-23) is associated with a range of cardiovascular and non-cardiovascular diseases in conventional epidemiological studies, but substantial residual confounding may exist. Mendelian randomization approaches can help control for such confounding. Methods: SCALLOP consortium data on 19,195 participants were used to generate an FGF23 genetic score. Data…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0Genomic Disorders in CKD across the Lifespan - 2 year(s) ago
Pathogenic structural genetic variants, also known as genomic disorders, have been associated with pediatric CKD. This study extends those results across the lifespan, with genomic disorders enriched in both pediatric and adult patients compared with controls. In the Chronic Renal Insufficiency Cohort study, genomic disorders were also associated with lower serum Mg, lower educational…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 2Reproductive Health in Women with Kidney Disease - 2 year(s) ago
Menstrual abnormalities, including oligomenorrhea, polymenorrhea, and irregular menses, have adverse health effects and worsen the quality of life of women with kidney disease. Early menopause, defined as menopause before 45 years, leads to a decline in ovarian hormones, which is associated with a
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0
Background Nephron endowment is a key determinant of hypertension and kidney disease in later life. Epigenetic changes have been proposed to mediate fetal programming and nephron number. DNA cytosine methylation, which plays a critical role in gene regulation, is affected by proteins encoded by the 10-11 translocation (TET) DNA demethylase gene family ( Tet1 , Tet2 , and Tet3 ), but the roles of…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet
Variants in TBC1D8B cause isolated nephrotic syndrome. This study found variants in TBC1D8B are not infrequent among patients with FSGS. TBC1D8B, functioning in endosomal maturation and degradation, is essential for nephrin trafficking https://t.co/ppdJIAeWJZ @MartinHelmstdt1 https://t.co/IBTW1nUcTz