thomas robert
@nephrobug
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nephrologist, MD, PhD, genetic kidney disease and rare kidney disease in Saint Joseph hospital and C2VN lab
Marseille, France
Joined September 2011
Our paper in Joint Bone Spine shows the first link between a novel CNNM2 variant & early-onset CPPD. The variant drives renal Mg wasting → chronic #hypomagnesemia. This expands the CNNM2 phenotype & urges genetic testing in atypical #CPPD. https://t.co/R60CwTPEKp
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Nephrologists! Check out this new series of review articles published by @MassGenBrigham researchers on genetic nephrology: https://t.co/PCFSqj4xKu
@janewitwong @MGBKidneys
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🥸2️⃣0️⃣ These findings highlight the need for caution when considering aspirin for primary prevention in older adults. In this population, long-term use *may* not be associated with cardiovascular benefit and bleeding risks remain a concern.
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🎥Watch Dr Laurent Mesnard present the NDT publication: CKDx is a good start - But can we go further? https://t.co/VbYmaM4Xz2
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Just out in Nature Reviews Nephrology. Kidney stone disease: risk factors, pathophysiology and management. https://t.co/u8izdfaLjZ
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🧐Read this interesting debate in NDT! *CKDx: a necessary step—but can we go further? 🆓 https://t.co/6bDJXgsqxn *CKDx: simplicity matters, implementation is key 🆓 https://t.co/6LM7jgTSYJ
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3/ Quoting Osler seems wise. But be caution in applying 19th-century reasoning to 21st-century Let's him in peace. 🕊️ They say: “Simplicity matters” We say: “Ambiguity is not simplicity.” #Nephrogenomics @com_SFNDT @FiliereORKiD @NDTsocial @ERAkidney @Laurent_Mesnard
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2/ In the age of #AI 🤖, patient data will be soon, if already classified automatically. Why build a system for yesterday? We need an operational and useful framework, not an ambigous one. Time will tell which approach prevails.
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1/ They call our process-based framework a “submarine with sails” ⛵ – brilliant in theory, but impractical in their view. At glance, the current g/h looks attractive, but a binary system risks taking us backward, ignoring the rich data already at hand.
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The debate on #CKDx classification continues! We’ve read the reply from the @ERAkidney G&K group. They champion simplicity over precision. A thread 🧵:
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💡 CKDx is a good start — but can we go further? 🔍 🚀 Exploring the strengths & limits of CKDx — and how we can push precision nephrology to the next level. @Laurent_Mesnard 🎥 https://t.co/JSAndXvoj5 🧬 #Nephrology | 🧪 #Genomics | 🎯 #PrecisionMedicine
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📽️Watch Dr Laurent Mesnard present the NDT publication: CKDx is a good start - But can we go further? https://t.co/VbYmaM4Xz2
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CKDx: a necessary step—but can we go further?
academic.oup.com
The classification of chronic kidney disease (CKD) without a definitive diagnosis, such as CKD of unknown origin (CKDu), remains a major clinical challenge
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Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management
nature.com
Nature Reviews Nephrology - This Review examines the use of pangenomic analysis to improve molecular diagnoses in adult nephrology, including available sequencing methods and their applications....
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Ongoing discussion about UACR or UPCR in glomerulonephritis captured by @NDTsocial Albuminuria predicts kidney events in IgAN https://t.co/umaTjmDT6d
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💡 Conclusion: Nephrogenomics isn’t just for pediatrics. It’s time to integrate it into routine adult nephrology.
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🔬 Faster time-to-diagnosis 🌍 But disparities persist: low representation in databases, lack of standardization
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🧪 From variant to diagnosis: — Reverse phenotyping — Multidisciplinary co-interpretation — Segregation studies — Ethical handling of VUS & secondary findings
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👨👩👧👦 Genetic diagnosis impacts: — Treatment decision (stop useless immunosuppressants) — Kidney transplant planning — Family cascade screening — Trial inclusion
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