Mónica Furlano

🧬 No has podido estar en las jornadas anuales del #GTERH?
🧬 Has ido y quieres repasar conceptos?
🧬Acabas de hacer el #MIR2025 y tienes dudas de qué especialidad escoger?
👇🏻Ya están disponibles los vídeos de las jornadas 2025👇🏻💖
#geneticarenal #mir25 #nefrologia

www.senefro.org/modules.php?...

Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype AbstractBackground. Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belong

The proof is in the data: academic.oup.com/ndt/advance-...
Cysts are not caused by Alport syndrome, though patients with Alport syndrome can have cysts.

Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria - Pediatric Nephrology Background Microscopic haematuria (MH) is a common incidental finding in childhood that typically resolves spontaneously but, if persistent, can be a sign of underlying genetic kidney disease. Best pr...

2️⃣ We used microscopic haematuria as an early flag, reaching out to families and offering genomic testing. Five kids + two family members diagnosed with Alport syndrome! 🩺 link.springer.com/article/10.1...

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome

doi.org/10.1093/ndt/...

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome pubmed.ncbi.nlm.nih.gov/39990911/

-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...

Cover of the March issue of Nature Reviews Nephrology

In our March issue: Reviews on integrins, endothelin-receptor antagonists, tubule–glomerulus crosstalk and collagens, plus Comments for #WorldKidneyDay on CKD screening, awareness, risk factors and AI-assisted detection go.nature.com/419A0GY

Clinical Spectrum and Prognosis of Atypical ADPKD Caused by Monoallelic Pathogenic Variants of IFT140

https://bit.ly/4h1uEDV

#VisualAbstract

On International Women’s Day, as the first woman president of @ERAkidney, I dream of a future where we no longer need to say ‘first woman’ for any role or position.

🧬#Alportsyndrome

The #ATHENA trial results showed:

- UACR and UPCR correlate best with eGFR decline

- identified other potential biomarkers that may serve as predictors of eGFR decline

@senefrologia.bsky.social #GTERH

👇🏻

Extrarenal manifestations in inherited kidney diseases ABSTRACT. Monogenic kidney diseases result from an abundance of potential genes carrying pathogenic variants. These conditions are primarily recognized for

Check this nice review about Extrarenal manifestations in inherited kidney diseases @ndt-era.bsky.social #nephsky
academic.oup.com/ndt/article/...

Kidney disease and the global health agenda - International Society of Nephrology

This initiative urges action to:
🔹 Improve global access to kidney care
🔹 Raise awareness of kidney health
🔹 Address environmental risks
🔹 Prioritize kidney diseases within the NCD agenda for stronger prevention and care.

Anti-nephrin antibody: a potential biomarker of minimal change disease AbstractBackground. Minimal change disease (MCD) is a common pathological type of nephrotic syndrome in children and adults, and the mechanisms remain obsc

more external validation of the anti-nephrin story
academic.oup.com/ckj/advance-... in @ckj-era.bsky.social

In around 20% MCD - but also some FSGS (suggesting again these arbitrary pathologic descriptors are not useful)

#NephSky

4️⃣ The KDIGO ADPKD Guideline offers a roadmap for evidence-based care, aiming to reduce the global burden of this inherited condition and improve lives worldwide.

Download the ADPKD Guideline, Executive Summary, and Data Supplement: kdigo.co/ADPKD

Read the guideline in KI: kdigo.co/ADPKD-Guidel...

1️⃣ We are pleased to announce the publication of the KDIGO 2025 ADPKD Guideline!

This first-ever KDIGO guideline focused on a rare kidney disease provides practical tools to improve diagnosis, care, and treatment.

Read the news release: kdigo.co/2025-ADPKD-G...

#ADPKD

Do you remember #TopNephrology stories in 2023? 👇Here is the recap

💡 #NephSky #MedSky any proposals for 2024?

www.nephjc.com/news/2024/1/...

🧬Muchas gracias Dra Paula Gandía del Hospital Peset de Valencia y Dra Andreia Gaspar Carnevale del Hospital Santa Cruz de #Lisboa por haber venido a formarse en enfermedades hereditarias en #ERH 🧬

🧬Estudio de nefropatía por HNF1B en España #enfermedadesraras
#minoritarias

➡️ Instrucciones para participar en la web de @senefrologia.bsky.social en la parte del #GTERH

🙋‍♀️IP: Beatriz Redondo

👇🏻 senefro.org/modules.php?...

🆕 Antibody identified in podocytopathies 🫘after Anti nephrin Ab⭐

Anti Slit diaphragm Ab ‼️‼️‼️

The heterogeneity in response to immunosuppression is understandable now!
#Nephsky

Metabolism at the crossroads of inflammation and fibrosis in chronic kidney disease - Nature Reviews Nephrology Kidney fibrosis is a key pathological process in chronic kidney disease. Here, the authors examine how the metabolic reprogramming of kidney immune and non-immune cells in response to injury can promo...

Metabolism at the crossroads of inflammation and fibrosis in chronic kidney disease @natureportfolio.bsky.social 👩‍🔬🧪🥼👨‍🔬 #Nephropathy ##NephSky #kidney #Kidneydisease #inflammation #fibrosis #nephrology ##cardiosky 👇👇

www.nature.com/articles/s41...

🧬Formación en enfermedades renales hereditarias 🧬

➡️En la web de @senefrologia.bsky.social en la parte del #GTERH, están todos los vídeos de las charlas de las jornadas de marzo de 2024 y anteriores

✅ un recurso para explorar y estar actualizados en #ERH 🧬👇🏻

senefro.org/modules.php?na…

Collagen formation, function and role in kidney disease - Nature Reviews Nephrology Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders. Here, the authors discuss collagen subtypes and provide a summary of collagen disorders, fibrotic process an...

Our spotlight on collagen- formation, function & role in kidney disease is out now!

A wonderful collaboration with Moumita Barua & Vanessa De Gregorio

#ECMatrix
#Nephro

Cell-Matrix Centre
@fbmh-uom.bsky.social
@uoft.bsky.social

www.nature.com/articles/s41...

💯Approach to elevated Ferritin

Infographic @bmj.com

HUS has a poor prognosis in children receiving maintenance kidney replacement therapy. Read this Original Article on HUS as cause of CKD stage 5 in children: results from the Polish Registry of Kidney Replacement Therapy in children. #OpenAccess
link.springer.com/article/10.100…

🧬Genetic testing in nephrology🧬