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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

12/n 🎉 Voila! 📜 Genetic report + enzyme analysis = #FabryDisease diagnosis confirmed!🧬✅ 🔹 Low α-Gal A 🧪 + GLA mutation 🔍 🧐 Pathology hinted, genetics sealed it! 💊 Now, let’s talk treatment! 🚀 #Nephrology #Genetics #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

22/n 🔬 Think Fabry! 🧐 🧪 Screen in: ✔️ Unexplained proteinuric CKD ✔️ CKD + neuropathy/stroke (young, no DM) ✔️ HOCM & cryptogenic stroke ⚠️ Underdiagnosed due to undertesting! EM is key in atypical LN & CKD! #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

21/n 🧬 **Fabry & ESKD Screening** 🩺 Should **all** ESKD patients be screened? 🤔 📊 We have data (see below), but is it enough? ❌ No clear guidelines yet. 💰 Cost & availability—should we go for **targeted screening**? Your thoughts? 👇 #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

20/n 🩺 Fabry ERT in India 🇮🇳 – When to Start? 👨 Males 💉 ✅ Symptomatic → Start ERT ASAP 🔍 Asymptomatic → Monitor, consider early ERT 👩 Females 🚺 ✅ Organ involvement → ERT 🔍 Mild/asymptomatic → Follow-up, delayed ERT if needed #ECNeph @myadla.bsky.social @theisn.org @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

19/n💰Fabry Treatment in 🇮🇳 🚨ERT is costly! Govt. Rare Disease Program can help. 🏥 🔹ERT options: 💉Agalsidase alfa (Replagal)–0.2 mg/kg biweekly 💉Agalsidase beta (Fabrazyme)–1 mg/kg biweekly 💡Govt support & advocacy = Better access✅ #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

18/n🧬 Fabry Treatment Options 🚀 🔹 ERT 💉 – Agalsidase alfa/beta 🔹 Chaperone Therapy 🏥 – Migalastat (for amenable GLA mutations) 🔹 SRT 🛑 – In trials! 🔹 Gene Therapy 🧬 – Future potential! #ECNeph @myadla.bsky.social @theisn.org @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

17/n 🧬 **Fabry Disease** Confirm diagnosis with: ✅ Genetic & biochemical tests ✅ Family history ✅ Histology #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

16/n🧬Fabry Kidney Disease–Key Clues! 👀Early:Asymptomatic CKD-often missed! 📉Later:Proteinuria→CKD→ESRD by 40s-50s🚨 ⚠️Subnephrotic proteinuria ⚠️Podocyte/tubular dysfunction ⚠️Family history of CKD 💡Unexplained CKD? Think Fabry! #ECNeph @myadla.bsky.social @theisn.org @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

15/n📢Patient Update! ✅MMF+HCQ well tolerated, no toxicity💊 🧐HCQ continued despite Fabry lipidosis 👶Family planning discussed💬 🧬Genetics referral for family screening👨‍👩‍👧‍👦 ⏳ERT decision pending full workup ✨Multisystem care in action #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

14/n 🧐 #FabryDisease & SLE – A Rare Duo? ✅ Fabry patients may have autoantibodies (ANA, dsDNA, APLA) 🧬🔄 ✅ Often misdiagnosed as lupus nephritis 🏥 ✅ Both cause proteinuria & CKD, but via different mechanisms! #Nephrology #Lupus #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

13/n 🏥 Final Diagnosis: 🔹 Class V Lupus Nephritis 🦋 🔹 Fabry Nephropathy 🧬 (podocytic lipidosis) ✨ A rare Lupus + Fabry overlap! 🔍 💊 Next: Tackling autoimmune & genetic components! 🚀 #Nephrology #Lupus #FabryDisease #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

11/n 🔬 Next Steps: ✅ α-Gal A levels & Gb3/Lyso-Gb3 🧪 ✅ GLA genetic testing – and we have the report! 📜🧬 📢 What does it reveal? 🤔 Fabry confirmed or something unexpected? 👀 Look out for the diagnosis! #Nephrology #Genetics #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

10/n 🔬 Pathology DOES Give Clues! 👀✨ While HCQ lipidosis & Fabry look similar, subtle differences help! 🧐 #ECNeph @theisn.org @myadla.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

9/n 🧐 HCQ Lipidosis vs. Fabry – A Biopsy Dilemma! 🔬 🧪 Both show zebra bodies & foamy cytoplasm! 🔬 Pathology alone can’t differentiate! ✅ Genetic & biochemical tests are key! #Nephrology #Genetics #Nephropathology #ECNeph @myadla.bsky.social @theisn.org

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

8/n 🔍Diagnosis?🤔 1️⃣Atypical/mild symptoms 2️⃣Lipidosis🧪(HCQ?) vs. Fabry🧬 3️⃣Heterozygous Fabry females = asymptomatic?🚺 4️⃣Unexplained CKD → Genetics? 🔬Next: α-gal A, Gb3/Lyso-Gb3, GLA test 💡Fabry or something else? 🏥 #Nephrology #ECNeph @myadla.bsky.social @ferarceamare.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

7/n🧬 Patient Pedigree & Symptom Analysis 🔍 – Key to unlocking the diagnosis! 👀📊 Check out the slide for insights! 🏥 #Nephrology #Genetics #CaseStudy #ECNeph @myadla.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

6/n 🧬#FabryDisease – When & How?🤔 👶Early: Neuropathic pain🔥, GI issues🤢 👨‍⚕️Young Adults: Proteinuria🚰, LVH❤️, corneal whorls👁️ ⏳Late: CKD🏥, strokes🧠, arrhythmias⚡ 🚺Females: Variable symptoms due to X-inactivation! #Nephrology #ECNeph @myadla.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

5/n #FabryDisease-Quick Facts X-linked GLA mutation→α-gal A def→Gb3 buildup 🔹Neuropathic pain🔥 Angiokeratomas🩸 Corneal whorls👁️ 🔹Proteinuria, CKD 🔹 LVH❤️arrhythmias⚡ 🔹Early stroke #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

4/n 🧐 How does HCQ work? MOA - fascinating! 🧬 See below! 👇 💊 How does it cause lipidosis? Let’s dive in! 🔬 #Pharmacology #HCQ #Nephrology #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

3/n 🧬Genetics & Kidneys: A Crucial Link! While ADPKD & Alport syndrome dominate, other IKD are just as important! 🏥 Let's explore diagnostic dilemmas in genetic kidney disorders—how to suspect & diagnose them?🤔 #ECNeph @theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

2/n 🧐 When should you suspect inherited kidney disease (IKD)? 🚩Know the red flags! #ECNeph @theisn.org @theisn.org @myadla.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

1/n Our patient has Lupus Nephritis (LN) with Renal Lipoidosis. 🏥🔬 There are several possible causes—what do you think is the most likely one in our patient? 🤔💭 Drop your guesses below! 👇 #ECNeph @myadla.bsky.social @myadla.bsky.social @myadla.bsky.social

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

Algorithm for use of autoantibodies in Lupus See dx.doi.org/10.1016/j.au... 👇👇👇 #ECNeph

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

Pathology of lupus nephritis #ECNeph Checkout at www.pediatric.theclinics.com/article/S003... 👇👇

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Arunkumar @arunkumarnephro.bsky.social · 07/03/2025

Importance of various autoantibodies in lupus #ECNeph

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