PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Genetic analysis reveals true origin of chronic kidney disease in undiagnosed patients

Genetic analysis reveals true origin of chronic kidney disease in undiagnosed patients
2024-04-03
(Press-News.org) Tokyo Medical and Dental University (TMDU) researchers discover that known genetic variants might account for a large portion of chronic kidney diseases of unclear origin

Tokyo, Japan – Chronic kidney disease (CKD) is extremely prevalent among adults, affecting over 800 million individuals worldwide. Many of these patients eventually require therapy to supplement or replace kidney functions, such as dialysis or kidney transplant. While most CKD cases originate from lifestyle-related factors or diseases such as diabetes and hypertension, the underlying causes of CKD remain unknown for about one in every ten people with end-stage renal failure. Could CKD in these patients stem from latent, undiagnosed genetic conditions? 

In a recent study published online on 14 February 2024 in Kidney International Reports, researchers from Tokyo Medical and Dental University (TMDU) in Japan set out to answer this question through a comprehensive genetic analysis of CKD patients. 

First, the researchers acquired data from 1,164 patients who underwent dialysis in four different clinics in the Kanagawa Prefecture during November 2019. From this multicenter cohort, the researchers filtered out adults who were over 50 years old, since people at that age have a lower incidence of inherited kidney diseases. They then filtered out patients who had an apparent cause for their CKD, leaving 90 adults with CKD of unknown origin who had consented to genetic testing. 

“We conducted a comprehensive analysis of 298 genes responsible for various inherited renal diseases using next-generation sequencing,” explains lead author Dr. Takuya Fujimaru. “These included polycystic kidney disease, nephronophthisis-related ciliopathies, autosomal dominant tubulointerstitial kidney disease, focal segmental glomerulosclerosis, Alport syndrome, and atypical hemolytic uremic syndrome.”

The results revealed that 10 of the 90 patients (11% of the final cohort) had pathogenic variants in CKD-causing genes. Importantly, for these patients, the clinical diagnosis at the time of dialysis was incorrect. What was particularly noteworthy was that some of the hereditary renal diseases contemplated in this study, such as Fabry's disease and Alport syndrome, could be diagnosed and treated early on to slow down or halt the progression of CKD. 

On top of these findings, the researchers determined that 17 patients (18.9%) had genetic variants of unknown significance (VUS) with a high probability of pathological involvement. While the relationship between these variants and kidney diseases is not clear, they should not be ignored or taken lightly. “Although the interpretation of these VUS is currently unknown, some of them may indeed be responsible for CKD,” remarks senior author Dr. Takayasu Mori. “Thus, true hereditary kidney diseases may underlie many more cases than anticipated.”

This study marks one of the world’s largest comprehensive genetic analysis of patients with end-stage renal failure using clinical data. As such, the conclusions derived from the results can have important implications in how CKD is diagnosed and managed in adults. “When the primary disease underlying a case of CKD is unknown, genetic analysis could lead to accurate diagnosis and appropriate treatment before the disease progresses, which could hopefully result in a decrease in the number of patients requiring dialysis,” highlights senior author Dr. Eisei Sohara. “Thus, proactive genetic analysis is recommended for adult patients without a definitive cause of CKD.” 

Notably, this research group has been conducting genetic analyses of hereditary kidney diseases since 2014, reaching over 1,500 families. They have recently filed a patent for a new genetic analysis system for Japanese individuals, which would assist in correctly diagnosing cases of CKD. With any luck, further efforts will pave the way to a brighter future for people with inherited kidney diseases. 

###

The article, “Genetic diagnosis of adult hemodialysis patients with unknown etiology,” was published in Kidney International Reports at DOI: 10.1016/j.ekir.2024.01.027
 

END


[Attachments] See images for this press release:
Genetic analysis reveals true origin of chronic kidney disease in undiagnosed patients

ELSE PRESS RELEASES FROM THIS DATE:

Jurassic shuotheriids reveal earliest dental diversification of mammaliaforms

2024-04-03
Palaeontologists have presented a new insight into the initial dental variations across mammaliaforms, providing a fresh perspective on the evolutionary past of these ancient beasts. The discovery, involving a team of international researchers including Professor Patricia Vickers-Rich from the Monash University School of Earth, Atmosphere and Environment, is published today in the renowned journal Nature. The research, conducted by a group of palaeontologists from prestigious institutions in New York, China and Australia, examines the tooth structure of the Jurassic ...

Novel high entropy alloy nanoparticle catalysts for growing high-density carbon nanotubes

Novel high entropy alloy nanoparticle catalysts for growing high-density carbon nanotubes
2024-04-03
High entropy alloys (HEAs) have attracted significant attention in various fields due to their unique properties such as high strength and hardness, and high thermal and chemical stabilities. Unlike conventional alloys, which typically incorporate small quantities of one or two additional metals, HEAs constitute a solid solution of five or more metals in equal atomic ratio. This unique composition results in unique and complex surface structures that contain many different active sites suitable for catalytic reactions. As a result, in recent years, HEA nanoparticles (NPs) have been extensively studied for their catalytic potential.   However, despite their ...

COVID-19 vaccination as effective for adults with common mental disorders as for those without

2024-04-03
INDIANAPOLIS – A large multi-state electronic health record-based study from the Centers for Disease Control and Prevention’s (CDC’s) VISION Network has found that COVID-19 vaccines are as effective for adults with anxiety or depression or mood disorders as for individuals without these common diagnoses. This is one of the first studies to evaluate COVID-19 mRNA vaccine effectiveness for those living with mental illness. While vaccination provided similar protection regardless of psychiatric diagnosis (none, one or multiple ...

Columbia University begins construction on New York City’s first all-electric biomedical research building

Columbia University begins construction on New York City’s first all-electric biomedical research building
2024-04-03
NEW YORK, NY (April 3, 2024) – Columbia University Vagelos College of Physicians and Surgeons (VP&S) will begin construction on New York City’s first all-electric university research building in May. The new biomedical research building in Washington Heights is designed by Kohn Pedersen Fox (KPF) and will house eight stories of laboratories and research facilities, collaboration corners, living walls, and community engagement spaces. The new biomedical research building will become the center of Columbia’s efforts to gain new understanding of diseases and develop next-generation ...

Tree of life for modern birds revealed

Tree of life for modern birds revealed
2024-04-03
2 April, 2024, Sydney; In a world first, a team of international scientists including three Australians, Al-Aabid Chowdhury and Professor Simon Ho from University of Sydney, and Dr Jacqueline Nguyen from Australian Museum and Flinders University, have determined the family tree of modern birds and pinpointed the timing of their evolution. Their findings have been published today in Nature. The largest study ever undertaken of modern bird genomes, the scientists combined genomic data of more than 360 bird species with data from nearly 200 bird fossils to reconstruct the most well-supported Tree of ...

Study finds gunshots in American cities twice as likely at night, potentially disrupting sleep for those in earshot

2024-04-03
  KEY TAKEAWAYS Researchers from Mass General Brigham analyzed timing and location of gunshots in six of the most populated U.S. cities (Baltimore, Boston, Washington, D.C., New York, Philadelphia, and Portland, Ore.) from 2015-2021. The team estimates that annually, approximately 12.5 million person-nights—the number of nights of gunshots multiplied by the number of people in earshot—are impacted by nighttime gunshots, and that those were more common in low-income areas in each city. The noise of nighttime gunshots may have underrecognized and underappreciated effects on ...

A real life Eye of Sauron? New project to spot possible chemical threats in the air

2024-04-03
Picture this disaster scenario in the making: At an industrial plant, a pipe cracks, spraying a cloud of tiny droplets into the air. Workers, however, are in luck. Within minutes, a laser-based device the size of a small suitcase spots the cloud and tells safety crews what’s in it so they know how to respond. That’s the vision behind a new project from a team of engineers and chemists at the University of Colorado Boulder, California Institute of Technology, University of California Santa Barbara, and three companies. It’s ...

Testing environmental water to monitor COVID-19 spread in unsheltered encampments

Testing environmental water to monitor COVID-19 spread in unsheltered encampments
2024-04-03
To better understand COVID-19’s spread during the pandemic, public health officials expanded wastewater surveillance. These efforts track SARS-CoV-2 levels and health risks among most people, but they miss people who live without shelter, a population particularly vulnerable to severe infection. To fill this information gap, researchers reporting in ACS’ Environmental Science & Technology Letters tested flood-control waterways near unsheltered encampments, finding similar transmission patterns as in the broader community and identifying previously unseen ...

A simple way to harvest more ‘blue energy’ from waves

A simple way to harvest more ‘blue energy’ from waves
2024-04-03
As any surfer will tell you, waves pack a powerful punch. Now, we are one step closer to capturing the energy behind the ocean’s constant ebb and flow with an improved “blue energy” harvesting device. Researchers report in ACS Energy Letters that simply repositioning the electrode — from the center of a see-sawing liquid-filled tube to the end where the water crashes with the most force — dramatically increased the amount of wave energy that could be harvested. The tube-shaped wave-energy harvesting device improved upon ...

Water-based paints: Less stinky, but some still contain potentially hazardous chemicals

2024-04-03
Choosing paint for your home brings a lot of options: What kind of paint, what type of finish and what color? Water-based paints have emerged as “greener” and less smelly than solvent-based options. And they are often advertised as containing little-to-no volatile organic compounds (VOCs). But, according to research published in ACS’ Environmental Science & Technology Letters, some of these paints do contain compounds that are considered VOCs, along with other chemicals of emerging concern. Paint consists of four ingredients: pigments, binders, additives ...

LAST 30 PRESS RELEASES:

ESMT Berlin research shows private ownership boosts hospital performance

The risk of death or complications from broken heart syndrome was high from 2016 to 2020

Does adapting to a warmer climate have drawbacks?

Team develops digital lab for data- and robot-driven materials science

Got data? Breastfeeding device measures babies’ milk intake in real time

Novel technology enables better understanding of complex biological samples

Autistic people communicate just as effectively as others, study finds

Alaska: Ancient cave sediments provide new climate clues

Adult-onset type 1 diabetes increases risk of cardiovascular disease and death

Onion-like nanoparticles found in aircraft exhaust

Chimpanzees use medicinal leaves to perform first aid

New marine-biodegradable polymer decomposes by 92% in one year, rivals nylon in strength

Manitoba Museum and ROM palaeontologists discover 506-million-year-old predator

Not all orangutan mothers raise their infants the same way

CT scanning helps reveal path from rotten fish to fossil

Physical activity + organized sports participation may ward off childhood mental ill health

Long working hours may alter brain structure, preliminary findings suggest

Lower taxes on Heated Tobacco Products are subsidizing tobacco industry – new research

Recognition from colleagues helps employees cope with bad work experiences

First-in-human study of once-daily oral treatment for obesity that mimics metabolic effects of gastric bypass without surgery

Rural preschoolers more likely to be living with overweight and abdominal obesity, and spend more time on screens, than their urban counterparts

Half of popular TikToks about “food noise” mention medications, mainly weight-loss drugs, to manage intrusive thoughts about food

Global survey reveals high disconnect between perceptions of obesity among people living with the disease and their doctors

Study reveals distinct mechanisms of action of tirzepatide and semaglutide

Mount Sinai Health System to honor Dennis S. Charney, MD, Dean of the Icahn School of Medicine at Mount Sinai, for 18 years of leadership and service at annual Crystal Party  

Mapping a new brain network for naming

Healthcare company Watkins-Conti announces publication of positive clinical trial results for FDA-cleared Yōni.Fit bladder support

Prominent chatbots routinely exaggerate science findings, study shows

First-ever long read datasets added to two Kids First studies

Dual-laser technique lowers Brillouin sensing frequency to 200 MHz

[Press-News.org] Genetic analysis reveals true origin of chronic kidney disease in undiagnosed patients