SGLT2-inhibitors in Adult Patients With #Alport Syndrome #SGLT2i

#VisualAbstract by @krishnadoctor1

www.kireports.org/article/S2468-0249(26)02...

#Alport Syndrome is a Partial #Tubulointerstitial Disease of the #Kidney

#VisualAbstract by @Husamjz

www.kireports.org/article/S2468-0249(25)00...

Looking forward to the ASSENT ( #Alport syndrome surrogate endpoints network) meeting today with the FDA. We need new effective therapies and paving a regulatory path is the first step.

Nice! One of the many ways we can envision gene / genetic driven therapies! #treatingtheuntreatable #genetics #Alport #raredisease

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome Alport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure. Although angiotensin II receptor blockers are available for symptomatic treatment, no radical or ...

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of #Alport syndrome pmc.ncbi.nlm.nih.gov/articles/PMC...

From RAAS blockade to regenerative medicine: evolving treatment strategies in #Alport syndrome pubmed.ncbi.nlm.nih.gov/41243004/

Triple Renin-Angiotensin System/Sodium-Glucose Transporter 2/Glycogen Synthase Kinase-3 Beta Inhibition for the Progression of CKD in Col4a3 -/- Mice with Alport Nephropathy - PubMed Triple Renin-Angiotensin System/Sodium-Glucose Transporter 2/Glycogen Synthase Kinase-3 Beta Inhibition for the Progression of CKD in Col4a3 -/- Mice with Alport Nephropathy

Triple Renin-Angiotensin System/Sodium-Glucose Transporter 2/Glycogen Synthase Kinase-3 Beta Inhibition for the Progression of CKD in Col4a3 -/- Mice with #Alport Nephropathy pubmed.ncbi.nlm.nih.gov/41201847/

Women with XL #Alport syndrome or those with AD Alport syndrome generally have a more slowly progressive kidney phenotype but are still at risk of kidney failure in some patients. Treatment of this group when they have albuminuria is recommended. You must screen them to know when this is. #KidneyWk

Men with XL #Alport syndrome and patients with AR Alport syndrome are at the highest risk for kidney failure (almost 100%) and pre-emptive treatment with RAASi is recommended for all. #KidneyWk

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome Alport syndrome is an inherited kidney disease that leads to end-stage kidney disease (ESKD) owing to pathogenic variants in COL4A3/4/5, which encode type IV collagen. Promptly identifying patients…

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in #Alport Syndrome
#openaccess

#Alport Castles

Lipidomics Unveils Critical Lipid Pathway Shifts in #Alport Syndrome pubmed.ncbi.nlm.nih.gov/40814624/

💡 #biobankcy

🎥 Watch a short feature of #biobankcy’s work on #Alport syndrome that was published in Kidney International!

🔗 Watch it here: buff.ly/Lkh8QtO

🧵 2/10

Looking west from Alport Stone as the setting sun fills in the missing colours in a paint by number dream...the Derbyshire landscape last evening #alport #sunset #derbyshire

The Riverside Walk From Youlgreave to the Gorgeous Hamlet of Alport
youtu.be/oOOS9ZWNexQ #Derbyshire #Alport #Walking #walk

Excited to be in Basal for BaCell3D!!

Enjoyed discussing with brilliant people working on disease modeling using organoids.

#BaCell3D #organoid #Alport #kidney
@bacell3d.bsky.social

Dapagliflozin in addition to Ramipril Ameliorates Kidney Disease Progression in Mice 🐁 with #Alport Syndrome pubmed.ncbi.nlm.nih.gov/40499560/

🚨 Our new preprint is out!
We developed kidney organoid models of X-linked Alport syndrome carrying deep-intronic variants. Through in-depth characterization, we demonstrate their potential as a robust platform for individualized splice-switching therapy development. #Alport #ASO
@hkd-l.bsky.social

¡Hola #NephSky @rosertorra.bsky.social @ndt-era.bsky.social
@mdabdulqader83.bsky.social @alanepes.bsky.social

Síndrome de #Alport y trasplante renal :

Join us for RPS-GlomCon #renalpath webinar lecture on Alport kidney disease spectrum
@glomcon.org
@renalpathsociety.bsky.social
Lecturer: Dr. Jeffrey Milner, PhD, FASN
Sunday, June 22, 2025
To register visit: renalpathsoc.org/event-6113933
#pathsky #nephsky #medsky #alport

The enzyme SMPDL3b in podocytes decouples proteinuria from #chronickidneydisease progression in experimental #Alport Syndrome

doi.org/10.1016/j.kint.2025.04.024

#MedSky #NephSky #OpenAccess #CKD #glomerulardisease #sphingolipids #podocyte

From my recent visit to #UCLA #Harbor #Cedars ! Thank you Sharon Adler aka GDZ Editor In Chief for the kind invitation to be the 2025 Henry Shavelle Professor!
#Nephsky #Skyneph #Medsky #FSGS #nephroticsyndrome #APOL1 #Alport #rFSGS

Looking forward to join this #Alport group for some quality time travel/conference :)
#FSGS #genetics

Having a fabulous Bluesky day in Japan! Trip to Minamata with team #Alport & family @moumitabarua.bsky.social @jeffminerphd.bsky.social @alportuk.bsky.social

#COL4A5-p.Gly624Asp is the Predominant #Variant in Europe Associated With a Mild #Alport Syndrome Phenotype

#VisualAbstract by @thana_susan

www.kireports.org/ar...

eGFR slope for patients with #Alport syndrome during the ATHENA natural history study:
✅XLAS males: −6.7 mL/min/1.73m2/year
✅XLAS females: 0.6 mL/min/1.73m2/year
✅ADAS: -1.7 mL/min/1.73m2/year

-165 patients with #Alport syndrome enrolled
-Median duration of follow up was 90 weeks
-Sponsored by Regulus Therapeutics/Sanofi
-Results will be very useful for designing future interventional trials

Prospective Cohort Study in Alport Syndrome Patients under Standard Therapy Patients with Alport syndrome, a common genetic kidney disease, exhibit variable rates of decline in kidney function. Consequently, this global, multicenter, prospective observational study aimed to g...

Prospective Cohort Study in #Alport Syndrome Patients under Standard Therapy - the ATHENA study www.kireports.org/article/S246...

FAVase Quarter-Final.

Whitstable 3 Whitchurch Alport 2.

What a game. Record Crowd. Elation and heartbreak.

Non-league football is brilliant.

#groundhopping #groundhopper #photography #nonleaguefootball #nonleague #FAVase
#Whitstable #Alport

Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome - PubMed Our results confirm that ADAS can lead to ESKD. We demonstrated that a glycine substitution involving the distal exons had a negative impact on renal survival in ADAS patients, probably due to a trime...

A glycine substitution involving the distal exons had a negative impact on renal survival in patients with autosomal dominant #Alport syndrome. pubmed.ncbi.nlm.nih.gov/39810285/