Mónica Furlano
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mfurlano.bsky.social
Mónica Furlano
@mfurlano.bsky.social
Nephrologist, Inherited kidney diseases working group, Rare kidney diseases, #GTERH @senefrologia.bsky.social
Reposted by Mónica Furlano
From 2020 to 2025, prior authorization for #GLP1-RAs became near-universal and OOP costs rose substantially in 2025, as plans increasingly required coinsurance.

ja.ma/3Vx5tRi
September 24, 2025 at 4:33 PM
🧬 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?...
Grupo de Enfermedades Renales Hereditarias - Vídeos de la Reunión 2025 - Bienvenida | Sociedad Española de Nefrología
www.senefro.org
March 28, 2025 at 7:20 AM
Reposted by Mónica Furlano
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.
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
academic.oup.com
January 14, 2025 at 3:32 PM
Reposted by Mónica Furlano
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...
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...
link.springer.com
February 17, 2025 at 9:05 PM
Reposted by Mónica Furlano
Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome

doi.org/10.1093/ndt/...
January 22, 2025 at 10:22 AM
Reposted by Mónica Furlano
COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome pubmed.ncbi.nlm.nih.gov/39990911/
March 3, 2025 at 5:42 PM
Reposted by Mónica Furlano
-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
March 8, 2025 at 4:08 PM
Reposted by Mónica Furlano
Prospective Cohort Study in #Alport Syndrome Patients under Standard Therapy - the ATHENA study www.kireports.org/article/S246...
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...
www.kireports.org
March 8, 2025 at 4:08 PM
Reposted by Mónica Furlano
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
February 20, 2025 at 10:20 AM
Reposted by Mónica Furlano
Clinical Spectrum and Prognosis of Atypical ADPKD Caused by Monoallelic Pathogenic Variants of IFT140

https://bit.ly/4h1uEDV

#VisualAbstract
February 26, 2025 at 5:01 PM
Reposted by Mónica Furlano
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.
March 8, 2025 at 6:29 PM
🧬#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

👇🏻
March 8, 2025 at 10:44 PM
Reposted by Mónica Furlano
Check this nice review about Extrarenal manifestations in inherited kidney diseases @ndt-era.bsky.social #nephsky
academic.oup.com/ndt/article/...
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
academic.oup.com
February 7, 2025 at 7:58 PM
Reposted by Mónica Furlano
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.
Kidney disease and the global health agenda - International Society of Nephrology
theisn.org
March 4, 2025 at 5:23 PM
Reposted by Mónica Furlano
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
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
academic.oup.com
January 30, 2025 at 6:55 PM
Reposted by Mónica Furlano
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...
January 21, 2025 at 3:24 PM
Reposted by Mónica Furlano
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
January 21, 2025 at 3:23 PM
Reposted by Mónica Furlano
Do you remember #TopNephrology stories in 2023? 👇Here is the recap

💡 #NephSky #MedSky any proposals for 2024?

www.nephjc.com/news/2024/1/...
December 2, 2024 at 12:29 PM
🧬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 🧬
November 29, 2024 at 2:52 PM
🧬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?...
November 26, 2024 at 9:23 AM
Reposted by Mónica Furlano
🆕 Antibody identified in podocytopathies 🫘after Anti nephrin Ab⭐

Anti Slit diaphragm Ab ‼️‼️‼️

The heterogeneity in response to immunosuppression is understandable now!
#Nephsky
November 24, 2024 at 8:43 AM
🧬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…
Bienvenida | Sociedad Española de Nefrología
https://senefro.org/modules.php?na…
November 19, 2024 at 1:38 PM
Reposted by Mónica Furlano
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...
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...
www.nature.com
November 18, 2024 at 6:28 AM
Reposted by Mónica Furlano
💯Approach to elevated Ferritin

Infographic @bmj.com
November 18, 2024 at 6:17 PM