Arunkumar
@arunkumarnephro.bsky.social
Nephrologist @ AIIMS, Delhi | FISN | ERA-YNP India Rep | ISN-ANIO Scholar | NDT Editorial Fellow | SoMe & MedEd
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
📜 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
March 7, 2025 at 5:19 PM
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
📜 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
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
🧪 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
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
🧪 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
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
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
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
👨 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
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
👨 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
🚨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
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
🚨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
🔹 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
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
🔹 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
Confirm diagnosis with:
✅ Genetic & biochemical tests
✅ Family history
✅ Histology
#ECNeph @myadla.bsky.social @theisn.org
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
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
👀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
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
👀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
✅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
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
✅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
✅ 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
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
✅ 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
🔹 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
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
🔹 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
✅ 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
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
✅ 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
While HCQ lipidosis & Fabry look similar, subtle differences help! 🧐
#ECNeph @theisn.org @myadla.bsky.social
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
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
🧪 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
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
🧪 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
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
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
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
Check out the slide for insights! 🏥 #Nephrology #Genetics #CaseStudy
#ECNeph @myadla.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
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
👶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
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
👶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
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
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
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
💊 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
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
💊 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
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
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
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
🚩Know the red flags! #ECNeph
@theisn.org @theisn.org @myadla.bsky.social
March 7, 2025 at 4:37 PM
2/n 🧐 When should you suspect inherited kidney disease (IKD)?
🚩Know the red flags! #ECNeph
@theisn.org @theisn.org @myadla.bsky.social
🚩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
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
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
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 4:30 PM
March 7, 2025 at 4:18 PM
