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, 2018 Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
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Journal of Inherited Metabolic Disease, 1995 SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
Thoene, Jess G.
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CTNS mutations in patients with cystinosis
Human Mutation, 1999 Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes.
Yair Anikster +2 more
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Cystinosis — a review of disease pathogenesis, management, and future treatment options
Journal of Rare DiseasesCystinosis is a rare autosomal recessive disease characterised by an accumulation of cystine in the lysosomes. It is caused by pathogenic variants of the cystinosin gene ( CTNS ), which interrupts the transport of cystine from the lysosomes into the ...
Lauren Devitt
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Journal of the American Medical Association, 1957
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
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• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
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Fertility status in male cystinosis patients treated with cysteamine
Fertility and Sterility, 2010 Contains fulltext : 88588.pdf (Publisher’s version ) (Open Access)OBJECTIVE: To analyze the fertility status in adult, male cystinosis patients treated with cysteamine.
Martine T P Besouw +2 more
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American Journal of Roentgenology, 1977
It has recently been shown that hypothyroidism complicates cystinosis. The radiographic bone changes of hypothyroidism (retarded skeletal age) cannot be detected while the patient has overt rickets, since the secondary ossification centers are not ossified.
M, Grünebaum, R L, Lebowitz
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It has recently been shown that hypothyroidism complicates cystinosis. The radiographic bone changes of hypothyroidism (retarded skeletal age) cannot be detected while the patient has overt rickets, since the secondary ossification centers are not ossified.
M, Grünebaum, R L, Lebowitz
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Management of bone disease in cystinosis: Statement from an international conference
Journal of Inherited Metabolic Disease, 2019 Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized ...
Katharina Hohenfellner +2 more
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Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis
Journal of the American Society of NephrologyVisual Abstract Key Points Ketogenic diet can change the metabolism in the body and helped restore the function of altered pathways in nephropathic cystinosis.
F. Bellomo +17 more
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Pregnancy in cystinosis patients with chronic kidney disease: A European case series
Journal of Inherited Metabolic Disease, 2022Cystinosis is a rare autosomal recessive disease leading to end‐stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing ...
A. Servais +8 more
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