Arunkumar
arunkumarnephro.bsky.social
Arunkumar
@arunkumarnephro.bsky.social
Nephrologist @ AIIMS, Delhi | FISN | ERA-YNP India Rep | ISN-ANIO Scholar | NDT Editorial Fellow | SoMe & MedEd
Reposted by Arunkumar
Happening today 9:30PM IST!
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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
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
March 28, 2025 at 2:36 AM
🙏 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
March 7, 2025 at 5:04 PM
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
March 7, 2025 at 5:00 PM
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
March 7, 2025 at 4:59 PM
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
March 7, 2025 at 4:58 PM
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
March 7, 2025 at 4:57 PM
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
March 7, 2025 at 4:56 PM
17/n 🧬 **Fabry Disease**

Confirm diagnosis with:
✅ Genetic & biochemical tests
✅ Family history
✅ Histology

#ECNeph @myadla.bsky.social @theisn.org
March 7, 2025 at 4:56 PM
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
March 7, 2025 at 4:55 PM
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
March 7, 2025 at 4:54 PM
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
March 7, 2025 at 4:53 PM
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
March 7, 2025 at 4:53 PM
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
March 7, 2025 at 4:51 PM
10/n 🔬 Pathology DOES Give Clues! 👀✨

While HCQ lipidosis & Fabry look similar, subtle differences help! 🧐

#ECNeph @theisn.org @myadla.bsky.social
March 7, 2025 at 4:51 PM
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
March 7, 2025 at 4:50 PM
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
March 7, 2025 at 4:49 PM
7/n🧬 Patient Pedigree & Symptom Analysis 🔍 – Key to unlocking the diagnosis! 👀📊

Check out the slide for insights! 🏥 #Nephrology #Genetics #CaseStudy

#ECNeph @myadla.bsky.social
March 7, 2025 at 4:49 PM
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
March 7, 2025 at 4:48 PM
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
March 7, 2025 at 4:40 PM
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
March 7, 2025 at 4:39 PM
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
March 7, 2025 at 4:38 PM
2/n 🧐 When should you suspect inherited kidney disease (IKD)?

🚩Know the red flags! #ECNeph

 @theisn.org @theisn.org @myadla.bsky.social
March 7, 2025 at 4:37 PM
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
March 7, 2025 at 4:36 PM
Reposted by Arunkumar
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
Importance of various autoantibodies in lupus #ECNeph
March 7, 2025 at 4:18 PM
Reposted by Arunkumar
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?
March 7, 2025 at 4:10 PM