Txp biopsy with rare probable cystine crystals in interstitial mononuclear cells in a patient with history of cystinosis. Rarely seen post-txp not clinically significant to my knowledge. #renalpath #pathsky #nephsky
April 22, 2026 at 3:28 PM
Txp biopsy with rare probable cystine crystals in interstitial mononuclear cells in a patient with history of cystinosis. Rarely seen post-txp not clinically significant to my knowledge. #renalpath #pathsky #nephsky
My granddaughter needs a kidney from a living donor. If you want to be her hero, call UAMS & tell them you'd like to screen to become a living donor for Riley McKee. She is in the 2nd grade and will need multiple kidneys in her life. She has cystinosis and may soon have to start dialysis. #Arkansas
March 15, 2025 at 2:57 PM
My granddaughter needs a kidney from a living donor. If you want to be her hero, call UAMS & tell them you'd like to screen to become a living donor for Riley McKee. She is in the 2nd grade and will need multiple kidneys in her life. She has cystinosis and may soon have to start dialysis. #Arkansas
Cystinosis and your kidneys - American Kidney Fund - goo.gl/alerts/dxpvee #GoogleAlerts
Cystinosis and your kidneys
Cystinosis is a rare, multisystem genetic disease that accounts for nearly 5% of all childhood cases of kidney failure. Cystinosis occurs in only about 1 in 100,000-200,000 children, so it is not wide...
goo.gl
November 27, 2024 at 2:37 PM
Cystinosis and your kidneys - American Kidney Fund - goo.gl/alerts/dxpvee #GoogleAlerts
Editorial: Gene Therapy for Nephropathic Cystinosis nej.md/4rhGm2Q
February 18, 2026 at 11:05 PM
Editorial: Gene Therapy for Nephropathic Cystinosis nej.md/4rhGm2Q
Did you know #Cystinosis was a fatal disease and is now a treatable disorder with a life expectancy beyond 50 years? Read More from the National Library of Medicine ⬇️⬇️
Cystinosis: the evolution of a treatable disease
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of ...
f.mtr.cool
April 29, 2025 at 8:02 PM
Did you know #Cystinosis was a fatal disease and is now a treatable disorder with a life expectancy beyond 50 years? Read More from the National Library of Medicine ⬇️⬇️
Exciting clinical study in @nejm.org from Cherqui Lab @ucsdhealth.bsky.social showing how 🩸 stem cell 🧬 therapy can treat cystinosis, a lysosomal metabolic disorder! Expanding the scope of 🩸🧬 tx! www.nejm.org/doi/full/10....
February 19, 2026 at 1:16 AM
Exciting clinical study in @nejm.org from Cherqui Lab @ucsdhealth.bsky.social showing how 🩸 stem cell 🧬 therapy can treat cystinosis, a lysosomal metabolic disorder! Expanding the scope of 🩸🧬 tx! www.nejm.org/doi/full/10....
Living with cystinosis: The rare disease that upended my life, but taught me resilience...
jrnl.ie/7079842
jrnl.ie/7079842
Living with cystinosis: The rare disease that upended my life, but taught me resilience
Lucy Beckwith was diagnosed with a rare condition as a baby and has since faced kidney failure, spinal surgery and a transplant in her teens.
jrnl.ie
July 2, 2026 at 8:15 PM
Living with cystinosis: The rare disease that upended my life, but taught me resilience...
jrnl.ie/7079842
jrnl.ie/7079842
#5 of 5 The company raised prices around 15% on its Hodgkin's disease treatment Matulane and about 20% on Cystaran, eye drops to help patients with symptoms from a rare condition called cystinosis.
January 2, 2025 at 2:23 AM
#5 of 5 The company raised prices around 15% on its Hodgkin's disease treatment Matulane and about 20% on Cystaran, eye drops to help patients with symptoms from a rare condition called cystinosis.
from the Vox editorial team @paceuniversity.bsky.social to launching a brand new zine! my former student Amanda Leigh is partnering with NGC to showcase the voices of adults living with #Cystinosis. seeking writing & art #submissions by 5/4/26
please help spread the word.
please help spread the word.
February 19, 2026 at 3:15 AM
from the Vox editorial team @paceuniversity.bsky.social to launching a brand new zine! my former student Amanda Leigh is partnering with NGC to showcase the voices of adults living with #Cystinosis. seeking writing & art #submissions by 5/4/26
please help spread the word.
please help spread the word.
Part 1: Origin Story
When my son was born we had no idea what his little boys would be put through all before turning one. Follow along for the full series. #rarediseasecaregiver #cystinosis
When my son was born we had no idea what his little boys would be put through all before turning one. Follow along for the full series. #rarediseasecaregiver #cystinosis
October 30, 2025 at 12:18 AM
Part 1: Origin Story
When my son was born we had no idea what his little boys would be put through all before turning one. Follow along for the full series. #rarediseasecaregiver #cystinosis
When my son was born we had no idea what his little boys would be put through all before turning one. Follow along for the full series. #rarediseasecaregiver #cystinosis
A new urine test may help doctors diagnose cystinosis earlier, potentially improving care for children with this rare kidney disease. doi.org/10.1172/jci.....
Greenberg et al .provide a proof-of-concept study on the use of urine YKL-40 as a biomarker.
Greenberg et al .provide a proof-of-concept study on the use of urine YKL-40 as a biomarker.
September 18, 2026 at 4:05 PM
A new urine test may help doctors diagnose cystinosis earlier, potentially improving care for children with this rare kidney disease. doi.org/10.1172/jci.....
Greenberg et al .provide a proof-of-concept study on the use of urine YKL-40 as a biomarker.
Greenberg et al .provide a proof-of-concept study on the use of urine YKL-40 as a biomarker.
From a wish on a napkin to a pioneering #genetherapy, @UCSanDiego.bsky.social Gene Therapy Initiative is transforming lives. Natalie Stack's #cystinosis journey shows how #research, families, and hope can change the future. 💙🧬 #BehindEveryBreakthrough
From Wish to Reality — The Gene Therapy Initiative at UC San Diego
A young patient’s wish sparks a decades long partnership that leads UC San Diego to pioneer life changing gene therapies, transforming cystinosis care and advancing treatments for many diseases.
buff.ly
December 16, 2025 at 4:02 PM
From a wish on a napkin to a pioneering #genetherapy, @UCSanDiego.bsky.social Gene Therapy Initiative is transforming lives. Natalie Stack's #cystinosis journey shows how #research, families, and hope can change the future. 💙🧬 #BehindEveryBreakthrough
New in the February 19, 2026, issue of NEJM:
Teclistamab–Daratumumab in Relapsed Multiple Myeloma (phase 3 MajesTEC-3 trial) nej.md/4431DUD
Hematopoietic Stem-Cell Gene Therapy for Cystinosis nej.md/3On4O4j
#MedSky
Teclistamab–Daratumumab in Relapsed Multiple Myeloma (phase 3 MajesTEC-3 trial) nej.md/4431DUD
Hematopoietic Stem-Cell Gene Therapy for Cystinosis nej.md/3On4O4j
#MedSky
February 19, 2026 at 12:48 PM
New in the February 19, 2026, issue of NEJM:
Teclistamab–Daratumumab in Relapsed Multiple Myeloma (phase 3 MajesTEC-3 trial) nej.md/4431DUD
Hematopoietic Stem-Cell Gene Therapy for Cystinosis nej.md/3On4O4j
#MedSky
Teclistamab–Daratumumab in Relapsed Multiple Myeloma (phase 3 MajesTEC-3 trial) nej.md/4431DUD
Hematopoietic Stem-Cell Gene Therapy for Cystinosis nej.md/3On4O4j
#MedSky
A G-tube (gastrostomy tube) delivers nutrition, fluids & meds directly to the stomach for those who can’t eat by mouth, like Oliver. It can be temporary or long-term, improves health & quality of life, and requires daily care. Safe, effective, and life-changing. 💚 #GTube #Cystinosis
April 29, 2025 at 4:53 PM
A G-tube (gastrostomy tube) delivers nutrition, fluids & meds directly to the stomach for those who can’t eat by mouth, like Oliver. It can be temporary or long-term, improves health & quality of life, and requires daily care. Safe, effective, and life-changing. 💚 #GTube #Cystinosis
Over 140 mutations in CTNS are linked to #cystinosis, with severe mutations causing infantile (nephropathic) forms.
Interpretation: Scientists see tons of #geneticdifferences cause cystinosis: bigger changes = a more severe form.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
Interpretation: Scientists see tons of #geneticdifferences cause cystinosis: bigger changes = a more severe form.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
June 6, 2025 at 3:02 PM
Over 140 mutations in CTNS are linked to #cystinosis, with severe mutations causing infantile (nephropathic) forms.
Interpretation: Scientists see tons of #geneticdifferences cause cystinosis: bigger changes = a more severe form.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
Interpretation: Scientists see tons of #geneticdifferences cause cystinosis: bigger changes = a more severe form.
Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.
Did you know? Organizations like the Cystinosis Research Network are dedicated to funding research and supporting affected individuals like Oliver and their families, check them out ⬇️ 👀 and learn more about this #RareDisease
About Cystinosis
f.mtr.cool
May 2, 2025 at 8:02 PM
Did you know? Organizations like the Cystinosis Research Network are dedicated to funding research and supporting affected individuals like Oliver and their families, check them out ⬇️ 👀 and learn more about this #RareDisease
Nephropathic cystinosis is a lysosomal storage disease due to biallelic pathogenic variants in the CTNS gene encoding the cystine transport protein cystinosin. Read this Review of long-term outcomes in nephropathic cystinosis. Open Access.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
May 19, 2025 at 7:21 PM
Nephropathic cystinosis is a lysosomal storage disease due to biallelic pathogenic variants in the CTNS gene encoding the cystine transport protein cystinosin. Read this Review of long-term outcomes in nephropathic cystinosis. Open Access.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Did you know? Growth in children with cystinosis is often slowed, this is caused by their metabolic abnormalities, renal (kidney) problems, and difficulty swallowing food. Oliver's most recent measurements are between the third and fifth percentiles for his age group. #Cystinosis #GTubeLife
May 4, 2025 at 8:01 PM
Did you know? Growth in children with cystinosis is often slowed, this is caused by their metabolic abnormalities, renal (kidney) problems, and difficulty swallowing food. Oliver's most recent measurements are between the third and fifth percentiles for his age group. #Cystinosis #GTubeLife
HSC gene therapy for cystinosis: In a phase 1-2 trial, patients received autologous CD34⁺ cells. Promising outlook on reducing cystine! PMID:41707137, N Engl J Med 2026, @NEJM https://doi.org/10.1056/NEJMoa2506431 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://doi.org/10.1056/NEJMoa2506431
No description available
doi.org
May 9, 2026 at 1:10 AM
Did you know "Cystinosis was the first lysosomal storage disease recognized to be due to defective lysosomal membrane transport, and it serves as a prototype for a small group of lysosomal transport disorders" Read more 📖⬇️
Cystinosis: the evolution of a treatable disease
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of ...
f.mtr.cool
April 30, 2025 at 3:03 PM
Did you know "Cystinosis was the first lysosomal storage disease recognized to be due to defective lysosomal membrane transport, and it serves as a prototype for a small group of lysosomal transport disorders" Read more 📖⬇️
Did you know #Cystinosis is a genetic disorder where the amino acid, cystine, builds up in cells, damaging them. This causes crystals to form, affecting organs and tissues, especially the kidneys and eyes.
April 29, 2025 at 4:54 PM
Did you know #Cystinosis is a genetic disorder where the amino acid, cystine, builds up in cells, damaging them. This causes crystals to form, affecting organs and tissues, especially the kidneys and eyes.
This song is crying in the rocking chair. Looking across the hospital room not knowing what is happening to your infant.
Listening for Every. Single. Breath.
I still feel it in my chest a full year post diagnosis.
#Party4U #cystinosis #rarediseasecaregiver
Listening for Every. Single. Breath.
I still feel it in my chest a full year post diagnosis.
#Party4U #cystinosis #rarediseasecaregiver
May 5, 2025 at 5:46 PM
This song is crying in the rocking chair. Looking across the hospital room not knowing what is happening to your infant.
Listening for Every. Single. Breath.
I still feel it in my chest a full year post diagnosis.
#Party4U #cystinosis #rarediseasecaregiver
Listening for Every. Single. Breath.
I still feel it in my chest a full year post diagnosis.
#Party4U #cystinosis #rarediseasecaregiver