Urinary Proteomics and Systems Biology Link Eight Proteins to the Higher Risk of Hypertension and Related Complications in Blacks Versus Whites DOI Creative Commons
De‐Wei An, Dries S. Martens, Gontse Mokwatsi

и другие.

PROTEOMICS, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 24, 2024

ABSTRACT Blacks are more prone to salt‐sensitive hypertension than Whites. This cross‐sectional analysis of a multi‐ethnic cohort aimed search for proteins potentially involved in the susceptibility salt sensitivity, hypertension, and hypertension‐related complications. The study included individuals enrolled African Prospective Study on Early Detection Identification Cardiovascular Disease Hypertension (African‐PREDICT), Flemish Environment, Genes Health Outcomes (FLEMENGHO), Cohort Patients with Type 2 Diabetes Mellitus Validation Biomarkers (PROVALID)‐Austria, Urinary Proteomics Combined Home Blood Pressure Telemonitoring Care Reform Trial (UPRIGHT‐HTM). Sequenced urinary peptides detectable 70% participants allowed identification parental were compared between Of 513 peptides, 300 had significantly different levels among healthy Black ( n = 476) White 483) South Africans sharing same environment. Analyses contrasting 582 versus 1731 Whites, Sub‐Saharan European Whites replicated findings. COL4A1, COL4A2, FGA, PROC, MGP, MYOCD, FYXD2, UMOD identified as most likely candidates underlying racially related Enriched pathways hemostasis, platelet activity, collagens, biology extracellular matrix, protein digestion absorption. Our suggests that MGP MYOCD being cardiovascular function, FGA PROC coagulation, FYXD2 homeostasis, COL4A1 COL4A2 major components glomerular basement membrane many incriminated higher its complication. Nevertheless, these eight their associated deserve further exploration molecular human studies potential targets intervention reduce excess risk complications

Язык: Английский

Lessons Learned from HERA: the First Alport Syndrome Therapeutic Clinical Trial DOI

Benjamin Weinstock

Clinical Journal of the American Society of Nephrology, Год журнала: 2024, Номер 19(8), С. 946 - 948

Опубликована: Июнь 21, 2024

Alport Syndrome Foundation, Scottsdale, Arizona Correspondence: Dr. B. André Weinstock, email: [email protected] See related article, "A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Syndrome," pages XXX–XXX.

Язык: Английский

Процитировано

0
Cross-Phenotype GWAS Supports Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis DOI

Yiming Luo,

Atlas Khan, Lili Liu

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Июль 3, 2024

An increased risk of primary biliary cholangitis (PBC) has been reported in patients with systemic sclerosis (SSc). Our study aims to investigate the shared genetic susceptibility between two disorders and define candidate causal genes using cross-phenotype GWAS meta-analysis.

Язык: Английский

Процитировано

0
Access to Expensive Therapies and Diagnostics for Kidney Care in Switzerland DOI Creative Commons
Valérie A. Luyckx, Paul L. de Zwart, Giuseppina Spartà

и другие.

Kidney360, Год журнала: 2024, Номер 5(9), С. 1281 - 1288

Опубликована: Июль 19, 2024

Key Points Inconsistent responses to the prior approval process for similar patients may lead inequities in access optimal care. The authorizations leads frustration among nephrologists and contribute moral distress. important delays kidney Background In Switzerland, must frequently obtain preauthorizations from health insurers certain medications/tests individual patients. These are time consuming, outcomes inconsistent. Clinical experience suggests expensive medications, related need processes involved with medication preauthorization requests. Methods An anonymous survey was conducted between November 2021 March 2022 regarding experiences applying medications genetic testing required care Switzerland. Results Ninety-four were received. most common reported require preapprovals rituximab, sodium glucose cotransporter-2 inhibitors (SGLT2is), mycophenolate mofetil, eculizumab. Rebuttals be eculizumab, SGLT2is, also denied medications. Most frequent requests complement Alport spectrum disorders. Requests cystic renal diseases, congenital syndromes, nephrotic syndromes. found further information seldom reasonable, 72% it rarely/never possible engage insurance physicians, 69% concerned physicians did not have relevant expertise. Respondents receiving different more than same insurer (58% versus 8%). One three that resulted a clinically delay treatment. Four of five respondents made them feel they could do their best patient. Conclusions From perspective nephrologists, Switzerland is cumbersome, transparent inequitable, result denial or treatment patients, contributes

Язык: Английский

Процитировано

0
Alport Syndrome: Expanding Diagnosis and Treatment DOI Creative Commons

Hou-Xuan Huang,

I‐Jung Tsai, Larry A. Greenbaum

и другие.

Pediatrics & Neonatology, Год журнала: 2024, Номер unknown

Опубликована: Окт. 1, 2024

Alport syndrome (AS) is the second common monogenic cause of end-stage kidney disease (ESKD) worldwide and caused by defective type 4 collagen due to pathogenic variants COL4A3, COL4A4, or COL4A5. Type also exists in eyes ears, thus ocular defects hearing loss occur AS. The understanding AS has expanded over past two decades greater availability genetic testing research on genotype-phenotype correlation. Patients previously diagnosed with idiopathic steroid resistant nephrotic ESKD unknown etiology may now be as if COL4A3-5 are identified. Some carriers heterozygous classified into females X-linked autosomal dominant AS, there typical pathologic changes glomerular basement membrane proteinuria progression disease. Lastly, it been recommended that renin-angiotensin-aldosterone system inhibition started soon possible for selected patients its long-term protective effect against function deterioration. purpose this review introduce these important concepts general pediatricians pediatric nephrologists.

Язык: Английский

Процитировано

0
Urinary Proteomics and Systems Biology Link Eight Proteins to the Higher Risk of Hypertension and Related Complications in Blacks Versus Whites DOI Creative Commons
De‐Wei An, Dries S. Martens, Gontse Mokwatsi

и другие.

PROTEOMICS, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 24, 2024

ABSTRACT Blacks are more prone to salt‐sensitive hypertension than Whites. This cross‐sectional analysis of a multi‐ethnic cohort aimed search for proteins potentially involved in the susceptibility salt sensitivity, hypertension, and hypertension‐related complications. The study included individuals enrolled African Prospective Study on Early Detection Identification Cardiovascular Disease Hypertension (African‐PREDICT), Flemish Environment, Genes Health Outcomes (FLEMENGHO), Cohort Patients with Type 2 Diabetes Mellitus Validation Biomarkers (PROVALID)‐Austria, Urinary Proteomics Combined Home Blood Pressure Telemonitoring Care Reform Trial (UPRIGHT‐HTM). Sequenced urinary peptides detectable 70% participants allowed identification parental were compared between Of 513 peptides, 300 had significantly different levels among healthy Black ( n = 476) White 483) South Africans sharing same environment. Analyses contrasting 582 versus 1731 Whites, Sub‐Saharan European Whites replicated findings. COL4A1, COL4A2, FGA, PROC, MGP, MYOCD, FYXD2, UMOD identified as most likely candidates underlying racially related Enriched pathways hemostasis, platelet activity, collagens, biology extracellular matrix, protein digestion absorption. Our suggests that MGP MYOCD being cardiovascular function, FGA PROC coagulation, FYXD2 homeostasis, COL4A1 COL4A2 major components glomerular basement membrane many incriminated higher its complication. Nevertheless, these eight their associated deserve further exploration molecular human studies potential targets intervention reduce excess risk complications

Язык: Английский

Процитировано

0