Happening today 9:30PM IST! Do join us ! Plz use #ECNeph in all your posts A well worked up case by @drsumanbehera.bsky.social Looking forward @dramiliflores.bsky.social @dilushiwijay.bsky.social @drpriyajohn.bsky.social @arunkumarnephro.bsky.social @theisn.org

@myadla.bsky.social · 2y ago

Hey Folks ! An exciting discussion #ECNeph Dont forget to join us! on X (27th March) on BS on 28th March Lets learn together ! @divyaveerssneph.bsky.social @dilushiwijay.bsky.social @acidosistubular.bsky.social @saiachi1.bsky.social @kajareeg.bsky.social @drsumanbehera.bsky.social

🙏 A big thank you to everyone for your active participation! 🎉 Looking forward to many more exciting case discussions. Special thanks to @myadla.bsky.social for the fantastic moderation! 👏 Stay tuned & join us @theisn.org for the next case! #ECNeph

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Our index patient is anti ds DNA negative .Whats the frequency and which class it is common ? Can you share your experience on dsDNA neg LN @arunkumarnephro.bsky.social #ECNeph

Arunkumar@arunkumarnephro.bsky.social · 2y ago

Importance of various autoantibodies in lupus #ECNeph

3/n #ECNeph @myadla.bsky.social @arunkumarnephro.bsky.social @raphapalma.bsky.social @ ANA positive , Proteinuria : 2.2 gm Is she satisfying ACR-EULAR criteria ? Lets have a quick recap ! @drpriyajohn.bsky.social @karnephro.bsky.social Note that AntidsDNA is negative Whats the role of renal biopsy?

2/ n #ECNeph @myadla.bsky.social @arunkumarnephro.bsky.social @drpriyajohn.bsky.social Refd to AIIMS On examination , Normal BP decreased vibration , preserved JPS How much significance to be given to neurology complaints ? @rowanzyada.bsky.social Do we have DD of Lupus neuropathy /cerebritis ?

4/n #ECNeph @karnephro.bsky.social @arunkumarnephro.bsky.social @myadla.bsky.social We shall check the score after kidney biopsy! Do you have any other DD at this point ? On biopsy, which class of LN would be present ? I/II/III/IV/V and possible reasons ? stephanietr612.bsky.social

Straightforward clinical presentation! What do u say @karnephro.bsky.social @renfamilia.bsky.social

ISNkidneycare@theisn.org · 2y ago

1/n Lets check the clinical details of Mrs RY , 29 YO woman with inflammatory polyarthritis Note that she had rash , photosensitivity. Skin biopsy showed LCV ! Are we at diagnosis in history ? What are your thoughts?#ECNeph @myadla.bsky.social @arunkumarnephro.bsky.social @drpriyajohn.bsky.social

Hello! I'm excited about today's #ECNeph discussion! I'm Fernanda, and I'm from Mexico City. Please, join us!

Friends ! Welcome for the interesting case discussion by @arunmumarnephro.bsky.social. An young lady with polyarthritis and kidney involvement .Lets jump into details shortly .Iam the moderator for this session @myadla.bsky.social Stay tuned ! We are back in 5 min #ECNeph @karnephro.bsky.social