Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. [PDF]
Mol Genet Metab, 2022 Hohenfellner K +8 more
europepmc +3 more sources
Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
doaj +4 more sources
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. [PDF]
Mol Genet Metab, 2022 Nießl C +31 more
europepmc +3 more sources
Hirschsprung's disease with infantile nephropathic cystinosis.
J Indian Assoc Pediatr Surg, 2015 The case of a 3-year-old boy diagnosed to have Hirschsprung′s disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information.
Mittal D +4 more
europepmc +3 more sources
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study [PDF]
Journal of Inherited Metabolic Disease, 2022 Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs).
Koenraad Veys +19 more
openalex +2 more sources
Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis
Ophthalmology Journal, 2021 Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type ...
Małgorzata Kowalczyk +3 more
openalex +3 more sources
Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene
Medical Science and Discovery, 2022 Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS.
Vaia Dokousli +4 more
openalex +3 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]
Clinical Case Reports, 2018 We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for
Kozina A. Anastasiya +10 more
openalex +2 more sources
Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]
ChildrenCystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require ...
Hassan Aleid +9 more
doaj +2 more sources
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
exaly +3 more sources