Research & Literature

Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study.

Liang H, Baudouin C, Tahiri Joutei Hassani R, et al.

Investigative ophthalmology & visual science 2015; (56(5)):3218-25 doi:10.1167/iovs.15-16499.

A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.

Yamaguchi S, Maruyama T, Wakino S, et al.

BMC nephrology 2015; (16()):187 doi:10.1186/s12882-015-0184-4.

Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells.

Sumayao R, McEvoy B, Newsholme P, McMorrow T

The Journal of physiology 2016; (594(12)):3353-70 doi:10.1113/JP271858.

Cystinosis: a review.

Elmonem MA, Veys KR, Soliman NA, et al.

Orphanet journal of rare diseases 2016; (11()):47 doi:10.1186/s13023-016-0426-y.

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis.

More V, Shanbag P

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2016; (27(3)):598-601 doi:10.4103/1319-2442.182438.

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis.

Cheung WW, Cherqui S, Ding W, et al.

Journal of cachexia, sarcopenia and muscle 2016; (7(2)):152-64 doi:10.1002/jcsm.12056.

Bartter syndrome associated with nephropathic cystinosis.

Osman NM, Sanosi AA

Sudanese journal of paediatrics 2016; (16(2)):93-98.

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

Elmonem MA, Khalil R, Khodaparast L, et al.

Scientific reports 2017; (7()):42583 doi:10.1038/srep42583.

Ocular Complications of Infantile Nephropathic Cystinosis.

Bishop R

The Journal of pediatrics 2017; (183S()):S19-S21 doi:10.1016/j.jpeds.2016.12.055.

Bone Complications of Cystinosis.

Langman CB

The Journal of pediatrics 2017; (183S()):S2-S4 doi:10.1016/j.jpeds.2016.12.052.

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam.

Ecel M, Sarı A, Delibaş A

Turkish journal of ophthalmology 2017; (47(5)):292-295 doi:10.4274/tjo.69922.

AJKD Atlas of Renal Pathology: Cystinosis.

Lusco MA, Najafian B, Alpers CE, Fogo AB

American journal of kidney diseases : the official journal of the National Kidney Foundation 2017; (70(6)):e23-e24 doi:10.1053/j.ajkd.2017.10.002.

Effects of long-term cysteamine treatment in patients with cystinosis.

Ariceta G, Giordano V, Santos F

Pediatric nephrology (Berlin, Germany) 2019; (34(4)):571-578 doi:10.1007/s00467-017-3856-4.

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Bastug F, Nalcacioglu H, Ozaltin F, et al.

Iranian journal of kidney diseases 2018; (12(1)):61-63.

Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.

Bertholet-Thomas A, Claramunt-Taberner D, Gaillard S, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(7)):1165-1172 doi:10.1007/s00467-018-3902-x.

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.

Bäumner S, Weber LT

Frontiers in pediatrics 2018; (6()):58 doi:10.3389/fped.2018.00058.

Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

Runde J, Rivera-Rivera E, Pompeii-Wolfe C, et al.

JPEN. Journal of parenteral and enteral nutrition 2019; (43(1)):166-169 doi:10.1002/jpen.1177.

Skeletal Consequences of Nephropathic Cystinosis.

Florenzano P, Ferreira C, Nesterova G, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018; (33(10)):1870-1880 doi:10.1002/jbmr.3522.

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.

Anastasiya KA, Elena OG, Natalia BV, et al.

Clinical case reports 2018; (6(9)):1871-1876 doi:10.1002/ccr3.1678.

Fanconi Syndrome.

Foreman JW

Pediatric clinics of North America 2019; (66(1)):159-167 doi:10.1016/j.pcl.2018.09.002.

Intrinsic Bone Defects in Cystinotic Mice.

Battafarano G, Rossi M, Rega LR, et al.

The American journal of pathology 2019; (189(5)):1053-1064 doi:10.1016/j.ajpath.2019.01.015.

Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus.

Das D, Sinha R, Dey S

Indian pediatrics 2019; (56(4)):325-327.

Management of bone disease in cystinosis: Statement from an international conference.

Hohenfellner K, Rauch F, Ariceta G, et al.

Journal of inherited metabolic disease 2019; (42(5)):1019-1029 doi:10.1002/jimd.12134.

Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation.

Matthai SM, Jacob S, Bindra MS, et al.

Indian journal of pathology & microbiology 2019; (62(3)):457-460 doi:10.4103/IJPM.IJPM_623_18.

Clinical myopathy in patients with nephropathic cystinosis.

Sadjadi R, Sullivan S, Grant N, et al.

Muscle & nerve 2020; (61(1)):74-80 doi:10.1002/mus.26726.

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

Papizh S, Serzhanova V, Filatova A, et al.

BMC nephrology 2019; (20(1)):400 doi:10.1186/s12882-019-1589-2.

Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis.

De Rasmo D, Signorile A, De Leo E, et al.

International journal of molecular sciences 2019; (21(1)) doi:10.3390/ijms21010192.

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study.

Csorba A, Maka E, Maneschg OA, et al.

BMC ophthalmology 2020; (20(1)):73 doi:10.1186/s12886-020-01336-w.

Nephropathic cystinosis: an update on genetic conditioning.

Topaloglu R

Pediatric nephrology (Berlin, Germany) 2021; (36(6)):1347-1352 doi:10.1007/s00467-020-04638-9.

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

Sadjadi R, Sullivan S, Grant N, et al.

Muscle & nerve 2020; (62(6)):681-687 doi:10.1002/mus.27039.

A novel sustained-release cysteamine bitartrate formulation for the treatment of cystinosis: Pharmacokinetics and safety in healthy male volunteers.

Berends CL, Pagan L, van Esdonk MJ, et al.

Pharmacology research & perspectives 2021; (9(2)):e00739 doi:10.1002/prp2.739.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Emma F, Hoff WV, Hohenfellner K, et al.

Kidney international 2021; (100(5)):1112-1123 doi:10.1016/j.kint.2021.06.019.

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model.

Goodman S, Khan M, Sharma J, et al.

Molecular genetics and metabolism 2021; (134(4)):309-316 doi:10.1016/j.ymgme.2021.11.006.

Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.

Vill K, Müller-Felber W, Landfarth T, et al.

Journal of inherited metabolic disease 2022; (45(2)):183-191 doi:10.1002/jimd.12464.

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.

Kluck R, Müller S, Jagodzinski C, et al.

Journal of inherited metabolic disease 2022; (45(2)):192-202 doi:10.1002/jimd.12473.

Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.

Vaisbich MH, Caires Ferreira J, Price H, et al.

JIMD reports 2022; (63(1)):66-79 doi:10.1002/jmd2.12260.

Cystinosis in Pediatric Renal Transplant Recipients: A Case-Control Study From Kuwait.

Gheith O, Nair P, Adel M, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2022; (20(Suppl 1)):95-99 doi:10.6002/ect.MESOT2021.P40.

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Nießl C, Boulesteix AL, Oh J, et al.

Molecular genetics and metabolism 2022; (136(4)):268-273 doi:10.1016/j.ymgme.2022.06.010.

Structural basis for proton coupled cystine transport by cystinosin.

Löbel M, Salphati SP, El Omari K, et al.

Nature communications 2022; (13(1)):4845 doi:10.1038/s41467-022-32589-2.

Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study.

Nakhaie S, Sharif AS, Hosseini Shamsabadi R, et al.

Medical journal of the Islamic Republic of Iran 2022; (36()):15 doi:10.47176/mjiri.36.15.

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.

Bondue T, Kouraich A, Berlingerio SP, et al.

International journal of molecular sciences 2023; (24(2)) doi:10.3390/ijms24021253.

Extrarenal complications of cystinosis.

Topaloglu R

Pediatric nephrology (Berlin, Germany) 2024; (39(8)):2283-2292 doi:10.1007/s00467-023-06225-0.

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience.

Algasem R, Zainy N, Alsabban E, et al.

Cureus 2024; (16(1)):e52662 doi:10.7759/cureus.52662.

Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.

Stabouli S, Sommer A, Kraft S, et al.

Pediatric nephrology (Berlin, Germany) 2024; (39(10)):2861-2874 doi:10.1007/s00467-024-06345-1.

Adherence to Cysteamine Therapy Among Patients Diagnosed with Cystinosis in Saudi Arabia: A Prospective Cohort Study.

Algasem R, Zainy N, Alsabban E, et al.

Pharmacy (Basel, Switzerland) 2024; (12(4)) doi:10.3390/pharmacy12040123.

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.

González K, Eixarch T, Nuñez L, Ariceta G

Orphanet journal of rare diseases 2024; (19(1)):415 doi:10.1186/s13023-024-03417-1.

Cystinosin is involved in Na+/H+ Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis.

Khare V, Farre JC, Rocca C, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.02.12.637793.

Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience.

Helmy R, Atia FM, Soliman NA

Italian journal of pediatrics 2025; (51(1)):110 doi:10.1186/s13052-025-01943-7.

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

Adda Neggaz L, Dahmani AC, Derriche I, et al.

BMC genomic data 2025; (26(1)):35 doi:10.1186/s12863-025-01325-2.

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old:  A case report.

Choudhary DS, Shaheen J, Kala R, et al.

Medicine international 2025; (5(4)):43 doi:10.3892/mi.2025.242.

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned.

Borsheim B, Vissing A, Ghossein C

Frontiers in pediatrics 2025; (13()):1584257 doi:10.3389/fped.2025.1584257.

JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux.

Nassar LM, Shi X, Roczniak-Ferguson A, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.06.06.657909.

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.

Aleid H, AlShareef T, Kaddourah A, et al.

Children (Basel, Switzerland) 2025; (12(8)) doi:10.3390/children12080992.

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.

Santoro A, Ferrara YV, De Angelis A

Experimental and molecular pathology 2025; (144()):104995 doi:10.1016/j.yexmp.2025.104995.

Phenotypic variability in cystinosis: Lessons from an atypical case.

Toso D, Furlano M, Tinoco A, et al.

Nefrologia 2025; (45(7)):501342 doi:10.1016/j.nefroe.2025.501342.

The assessment and treatment of the musculoskeletal manifestations of cystinosis.

Singh P, Marsh D, Sharkey M

Frontiers in nephrology 2025; (5()):1624586 doi:10.3389/fneph.2025.1624586.

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients.

Rezaei K, Shahraki K, Chen L, et al.

Scientific reports 2025; (15(1)):36262 doi:10.1038/s41598-025-20108-4.

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

Medaer L, Mora R, Zhou Z, et al.

Journal of cachexia, sarcopenia and muscle 2025; (16(6)):e70116 doi:10.1002/jcsm.70116.

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.

Angadi AM, Jakhalu K, Mushtaq I, Shah S

Case reports in ophthalmology 2025; (16(1)):847-855 doi:10.1159/000548833.

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome.

Yoshida R, Hosokawa M, Ukawa T, et al.

Kidney medicine 2026; (8(2)):101227 doi:10.1016/j.xkme.2025.101227.

Hematopoietic Stem-Cell Gene Therapy for Cystinosis.

Barshop BA, Ball ED, Benador N, et al.

The New England journal of medicine 2026; (394(8)):753-762 doi:10.1056/NEJMoa2506431.