Nico Gagelmann Cystinosis is a rare autosomal lysosomal storage disorder caused by a defect in cystine transport. This poorly soluble amino acid accumulates in the lysosomes of various organs, especially kidneys, inducing progressive kidney failure. Patients often suffer cytopenia associated

On World Kidney Day, the Paediatric Renal Unit honours patients with cystinosis.
#WorldKidneyDay2024
#AsibeHealthyGP

My sons have a rare genetic disorder called #cystinosis . This week we are hosting six other teenagers from around North America with cystinosis for the first “Camp Cystinosis.” Wish us luck!

#renalpath cystinosis in an adult female, found 2 multinucleated podocyte on LM. Genetic testing showed heterozygous mutation of CTNS gene.

Day 2 of Camp Cystinosis: rafting on the Provo River

Camp Cystinosis Day 3: Park City alpine slide and synchronized swimming in the Homestead Crater

#hemepath Bone marrow in patient with cystinosis

Spent Wednesday through Friday in Newport Beach at the Cystinosis Research Symposium. Lots of inspiring research gives me hope for my children. It’s an honor to serve with these people on the Scientific Review Board.

Striking example of multinucleated podocytes in a case of cystinosis. EM shows crystalline clefts in podocyte cytoplasm. #renalpath #pathtwitter

Happy (slightly belated) St.Patrick's Day from Cystinosis Ireland ☘️
We are proud to represent Ireland and those affected by cystinosis in Ireland, within the global cystinosis community 🌍
We're lucky to have a small but mighty group of volunteers across Ireland. Thank you 💛

Happy to present our most recent work at the annual meeting of the American Academy of Neurology (AAN) in Denver, titled: “Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity” #tfeb #neurodegeneration #autophagy

🧬🧬 Genes in kidney disease

kdigo.org/wp-content/upl…

KDIGO

✅Disease for which specific therapy available-Fabry/ Primary Hyperoxaluria/Co Q mutation/Cystinosis

Today is #cystinosis Awareness Day—we are recognizing everyone within the community, and specifically Jaxon and his family.

Learn about how his parents help him ensure his future by understanding his diagnosis and learning how to manage #cystinosis : bit.ly/3CNsoOu

🧬🧬Genetic Disease in kidney transplant

Why screen 📺

🛎️Some disease with high recurrence risk-aHUS/C3 glomerulopathy/primary hyperoxaluria

🛎️Some disease with specific therapy-Fabry/Cystinosis

KIReports

kireports.org/article/S2468-…

Some of you may be aware, our First Team Manager Danny Chapman and his wife lost their son Jack back in 2009 due to a rare genetic condition known as Cystinosis. There is currently no funding or treatment for the condition.

🔬Specific kidney bx findings of inherited Ds

🦓Fabry-zebra body on EM

🧺Alport-thinning/splitting of GBM-basket weave

ADTKD-Medulla cysts

💎Cystinosis-cystine crystals in tubular cells/IFTA

🔮1 hyperoxaluria-Ca oxalate crystals in tubular lumen

Roser Torra #KidneyWk 👏

Cystinosis is a rare genetic disorder characterized by the accumulation of the amino acid cystine within cells, leading to damage in various organs, including the kidneys, eyes, muscles, and the brain.

On Cystinosis Awareness Day, we stand in solidarity with patients,

Inspiring talk by Pr Thoene Who published a JCI on cystinosis in 1976 to open a 2-day Guideline meeting on this rare disease! Société de Néphrologie Pédiatrique ERKNet Filière ORKiD OSCAR HCL | Recherche en santé Cystinosis Research @AIRG_France IPNA Ped Nephrology time to work!

Celebrating the #cystinosis awareness day! What an amazing #cystinosis community of heroes and families, NGO and industry partners. Huge thanks to all #RareDisease Cystinosis CRN Cystinosis Network Europe Cystinosis Ireland Recordati Rare Diseases sidsdoc Dina Abdellatif Rasha Darwish John D Mahan