Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns-/- zebrafish embryos. Cystinosis is a prototype lysosomal storage disorder caused by mutations in the CTNS gene...
Published in World journal of pediatrics : WJP
Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities. We searched Pubmed and Scopus databases to find relevant article...
La cystinose est une maladie rare caractérisée par une accumulation intra-lysosomale de cystine dans les cellules. En l'absence de traitement, les patients souffrent d'une insuffisance rénale terminale vers l'âge de 6 à 8 ans. Plusieurs options thérapeutiques existent pour les patients atteints de cystinose, mais aucune ne peut les guérir définitiv...
Cystinosis is an autosomal recessive metabolic disease characterized by lysosomal accumulation of cystine in all the cells of the body. Infantile cystinosis begins in infancy by a renal Fanconi syndrome and eventually leads to multi-organ failure, including the kidney, eye, thyroid, muscle, and pancreas, eventually causing premature death in early ...
Published in Pediatric nephrology (Berlin, Germany)
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian fami...
Published in Biomaterials advances
Mucoadhesive thermogels were developed by crosslinking poly(n-isopropylacrylamide) based polymers with chitosan and incorporating disulfide bridges, capable of releasing cysteamine upon interaction with mucin, for the treatment of cystinosis. Through crosslinking with chitosan and incorporating varying concentrations of the disulfide monomer into t...
Published in CEN case reports
A 7-month-old male infant was referred to us for evaluation of hypercalcemia and failure to thrive. He was the second-born child to third-degree consanguineous parents with a birth weight of 3.5 kg. The index child was severely underweight. Initial laboratory investigations showed hypercalcemia (13.6 mg/dL), hypophosphatemia, hyponatremia, hypokale...
Published in Orphanet journal of rare diseases
Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome. Loss of transporter function leads to intralysosomal cystine accumulation and long-term damage to various tissues and or...
Published in Journal of Anesthesia, Analgesia and Critical Care
Here, we describe the case of a 39-year-old woman with cystinosis who already suffered from an extra parenchymal pattern of restrictive lung disease and, after SARS-CoV-2-related respiratory failure, had a difficult weaning from mechanical ventilation and required tracheostomy. In this rare disease, due to the mutation of the CTNS-gene located on c...
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular concentration of cystine highlight the necessity of accurate monitoring of intracellu...
