Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12562
Abstract: Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end‐stage kidney disease (ESKD) and reduces the… read more here.
Keywords: infantile nephropathic; age; nephropathic cystinosis; cohort study ... See more keywords
Original articleCTNS molecular genetics profile in a Persian nephropathic cystinosis populationPerfil genético molecular del gen CTNS en una población persa con cistinosis nefropática
Sign Up to like & getrecommendations! Published in 2017 at "Nefrologia"
DOI: 10.1016/j.nefro.2016.11.024
Abstract: Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. read more here.
Keywords: genetics; molecular genetics; gen; articlectns molecular ... See more keywords
Cystinosis distal myopathy, novel clinical, pathological and genetic features
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.05.010
Abstract: Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand… read more here.
Keywords: pathological genetic; nephropathic cystinosis; clinical pathological; distal myopathy ... See more keywords
Swallowing dysfunction in patients with nephropathic cystinosis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.01.011
Abstract: INTRODUCTION Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like… read more here.
Keywords: patients cystinosis; patients nephropathic; swallowing dysfunction; nephropathic cystinosis ... See more keywords
Genetic Landscape of Nephropathic Cystinosis in Russian Children
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.863157
Abstract: Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the… read more here.
Keywords: nephropathic cystinosis; ctns gene; landscape nephropathic; genetic landscape ... See more keywords
Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis
Sign Up to like & getrecommendations! Published in 2020 at "Saudi Journal of Ophthalmology"
DOI: 10.4103/1319-4534.305049
Abstract: Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by abnormal accumulation of intracellular cystine in various tissues including the brain, kidneys, bones, and eyes. Infantile nephropathic cystinosis is the most severe phenotype of… read more here.
Keywords: optical coherence; case nephropathic; posterior segment; coherence tomography ... See more keywords