Results 21 to 30 of about 2,800 (183)

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

Frontiers in Pediatrics
Cystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim, Andrew Vissing, Andrew Vissing, Cybele Ghossein, Cybele Ghossein   +4 more
doaj   +2 more sources

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients [PDF]

Orphanet Journal of Rare Diseases, 2011
Background Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes.
Bouazza Naïm, Tréluyer Jean-Marc, Ottolenghi Chris, Urien Saik, Deschenes Georges, Ricquier Daniel, Niaudet Patrick, Chadefaux-Vekemans Bernadette   +7 more
doaj   +2 more sources

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam [PDF]

Türk Oftalmoloji Dergisi, 2017
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
Mahmut Ecel, Ayça Sarı, Ali Delibaş
doaj   +2 more sources

Patient journey in cystinosis: focus on non-adherence and disease management [PDF]

Drugs in Context
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta, Simón Lalanza, Catalina Peña, Marta Martínez Montero, Carlos Bezos Daleske, Laura Acuña Álvarez, Elisa Giner   +6 more
doaj   +2 more sources

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]

Turk J Ophthalmol
Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Üzüm S, Bozkurt Oflaz A, Guluzade S, Tınkır Kayıtmazbatır E, Bozkurt B.   +4 more
europepmc   +2 more sources

Testicular function in males with infantile nephropathic cystinosis [PDF]

Human Reproduction, 2021
Joachim Wistuba, Sabine Kliesch, Julia Rohayem   +2 more
exaly   +2 more sources

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts [PDF]

Cells, 2022
Justine Bacchetta, Maren Leifheit-Nestler, Dieter Haffner   +2 more
exaly   +2 more sources

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder. [PDF]

J Cachexia Sarcopenia Muscle
Abstract Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations. C57BL/6 Ctns−/− mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability to eliminate the hormone leptin in CKD.
Cheung WW, Zhou P, Zheng R, Gertler A, Oliveira EA, Mak RH.   +5 more
europepmc   +2 more sources

Cellular and Molecular Mechanisms of Nephropathic Cystinosis [PDF]

, 2022
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2).

core   +1 more source

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis [PDF]

, 2021
Nephropathic cystinosis is a severe, monogenic systemic disorder that presents early in life and leads to progressive organ damage, particularly affecting the kidneys.
Afd Pharmacology, Masereeuw, Rosalinde, Levtchenko, Elena N, Jamalpoor, Amer, Pharmacology, Janssen, Manoe J, Othman, Amr   +6 more
core   +2 more sources