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Fertility in Cystinosis.
Reda A, Veys K, Besouw M. Reda A, et al. Cells. 2021 Dec 15;10(12):3539. doi: 10.3390/cells10123539. Cells. 2021. PMID: 34944047 Free PMC article. Review.
The majority of male cystinosis patients are infertile due to azoospermia, in contrast to female patients who are fertile. Over recent decades, the fertility status of male patients has evolved from a primary hypogonadism in the era before the systematic treatment with cys …
The majority of male cystinosis patients are infertile due to azoospermia, in contrast to female patients who are fertile. Over recen …
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J. Haffner D, et al. Cells. 2022 Jan 5;11(1):170. doi: 10.3390/cells11010170. Cells. 2022. PMID: 35011732 Free PMC article. Review.
Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life …
Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients …
Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.
Kruse F, Keidel LF, Priglinger S, Luft N, Priglinger C. Kruse F, et al. Klin Monbl Augenheilkd. 2023 Mar;240(3):260-265. doi: 10.1055/a-2020-0926. Epub 2023 Jan 25. Klin Monbl Augenheilkd. 2023. PMID: 36696914 Review. English.
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. ...While renal complications predominate in the early forms of cystinosis, corneal crystal accumulation will inevitably manifest in all patients. ...
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. ...While renal complicatio …
Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.
Keidel LF, Schworm B, Hohenfellner K, Kruse F, Priglinger S, Luft N, Priglinger C. Keidel LF, et al. Klin Monbl Augenheilkd. 2023 Mar;240(3):266-275. doi: 10.1055/s-0037-1599653. Epub 2023 Mar 28. Klin Monbl Augenheilkd. 2023. PMID: 36977427 Review. English.
Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 - 1 : 200 000 cases. ...This review aims to increase the awareness of vision-threatening retinal and choroidal changes in cystinosis and the concomitant findings in SD-OCT....
Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 - 1 : 200 000 cases. ...This review aims to increase …
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R. Hohenfellner K, et al. Cells. 2022 Mar 25;11(7):1109. doi: 10.3390/cells11071109. Cells. 2022. PMID: 35406673 Free PMC article. Review.
In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic di …
In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated a …
Effects of long-term cysteamine treatment in patients with cystinosis.
Ariceta G, Giordano V, Santos F. Ariceta G, et al. Pediatr Nephrol. 2019 Apr;34(4):571-578. doi: 10.1007/s00467-017-3856-4. Epub 2017 Dec 19. Pediatr Nephrol. 2019. PMID: 29260317 Free PMC article. Review.
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile …
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in th …
Nephropathic cystinosis: an international consensus document.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. ...Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impac …
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosi …
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.
Tsilou E, Zhou M, Gahl W, Sieving PC, Chan CC. Tsilou E, et al. Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. doi: 10.1016/j.survophthal.2006.10.006. Surv Ophthalmol. 2007. PMID: 17212992 Free PMC article. Review.
Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described ophthalmic manifestations, but successful kidney transplantation significantly changed the natu …
Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation and pigmentary retinopathy …
[Cystinosis: From the gene identification to the first gene therapy clinical trial].
Cherqui S. Cherqui S. Med Sci (Paris). 2023 Mar;39(3):253-261. doi: 10.1051/medsci/2023025. Epub 2023 Mar 21. Med Sci (Paris). 2023. PMID: 36943122 Free PMC article. Review. French.
Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure, including the kidney, eye, thyroid, muscle, and pancreas, eventually causing premature death in early adulthood. ...In this review, we describe the path t …
Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure, including the …
Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature.
El Ghoul K, Akiki D, Nawfal N, Jaoude MA. El Ghoul K, et al. Transpl Immunol. 2024 Apr;83:101993. doi: 10.1016/j.trim.2024.101993. Epub 2024 Jan 14. Transpl Immunol. 2024. PMID: 38224843 Review.
This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT. The first patient, diagnosed with infantile nephropathic cystinosis treated by cystine-depleting therapy, was operated by KT at t …
This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT. The first …
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