Results 71 to 80 of about 48,474 (154)

Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus

, 2017
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age.
Cláudia M Salgado, Emily Joyce, Sarangarajan Ranganathan, Jacqueline Ho, Areeg El-Gharbawy, Miguel Reyes-Múgica   +5 more
core   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

A Recent Experience in an Egyptian Medical Center: Strategies for the Clinical and Genetic Diagnoses of Nephropathic Cystinosis

, 2013
Aims: To screen cases of infantile cystinosis among different forms of proximal renal tubular acidosis (RTA). Study Design: Cross sectional. Place and Duration of Study: From a total of 25 families of RTA followed up in Nephrology unit of Mansoura ...
Hadid, Hany Abo, Al-Haggar, Mohammad, Wahba, Yahya, Bencivenga, Paola, Ahmad, Nermin, Taranta, Anna   +5 more
core   +1 more source

Nephropathic Cystinosis: A Distinct Form of CKD–Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

, 2020
Background The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown ...
Rachel I. Gafni, Katherine Wesseling-Perry, Carlos R. Ferreira, Luis Fernandez de Castro, Pablo Florenzano, Tella, Sri Harsha, Wesseling-Perry, Katherine, Barbara Gales, Roberts, Mary Scott, Isidro B. Salusky, Gales, Barbara, Harald Jüppner, Florenzano, Pablo, Wolf, Myles, Michael T. Collins, Jimenez, Macarena, Markovich, Daniela, Salusky, Isidro B., Daniela Markovich, Myles Wolf, Macarena Jimenez, Mary Scott Roberts, Fernandez de Castro, Luis, Gahl, William A., William A. Gahl, Ferreira, Carlos R., Sri Harsha Tella, Gafni, Rachel I., Collins, Michael T., Juppner, Harald, Galina Nesterova, Nesterova, Galina   +31 more
core   +1 more source

Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis

, 2022
The lysosomal storage disease cystinosis is caused by mutations in CTNS, encoding a cystine transporter, and in its severest form leads to proximal tubule dysfunction followed by kidney failure.
Paula Lewis (4542661), Robert 'Atiola (10997790), Sree Sreebhavan (1217271), Prasanna Kallingappa (1210452), Jennifer Hollywood (1197327), Pang Yuk Cheung (1210017), Brya Matthews (1185198), Alan Davidson (1181334), Aparajita Chatterjee (8579916), Emma Buckels (1190709), Renita Martis (1212855)   +10 more
core   +1 more source

Ocular cystinosis – Clinical presentation and review of the literature

Indian Journal of Ophthalmology. Case Reports
Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular
Shweta Dhiman, Santosh K Mahapatra, Anjalika Parhi, Pallavi Shree, Parul Jain   +4 more
doaj   +1 more source

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

, 2022
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 ...
Elena Levtchenko, Bianca Maria Goffredo, Montini, Giovanni, Canalini, Fabrizio, Marco Pennesi, Giovanni Montini, Cassiman, David, Emma, Francesco, Goffredo, Bianca Maria, Francesco Emma, David Cassiman, Levtchenko, Elena, Silvia Rossi, Pennesi, Marco, Rossi, Silvia, Fabrizio Canalini, Enrico Verrina, Verrina, Enrico, Peruzzi, Licia, Licia Peruzzi   +19 more
core   +1 more source

Infantile Cystinosis [PDF]

, 2009
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Neves, R, Castro, I
core  

Perturbation of ATP6V0A1 as a driver and druggable target for renal proximal tubular cellular injury in nephropathic cystinosis

, 2022
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to develop new therapies to preserve renal function.
Pineda Sanjuan, Silvia, Sigdel, Tara K., Sarwal, Minnie M., Sansanwal, Poonam, Sur, Swastika, Kerwin, Maggie, Sirota, Marina   +6 more
core   +1 more source

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series

Ophthalmology and Therapy, 2018
Introduction Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.
Susmito Biswas, Krishanthy Sornalingam
doaj   +1 more source