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Infantile nephropathic cystinosis [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2011
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Peco-Antić Amira, Kostić Mirjana, Bogdanović Radovan, Spasojević Brankica, Đorđević Maja, Paripović Dušan, Kovačević Dragana   +6 more
doaj   +3 more sources

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

Diagnostics, 2020
Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora   +5 more
doaj   +1 more source

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2022
Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Katharina Vill, Wolfgang Müller‐Felber, Timotheus Landfarth, Christian Köppl, Nadine Herzig, Christine Knerr, Heike Holla, Günther Steidle, Erik Harms, Katharina Hohenfellner, the Interdisciplinary Cystinosis Group   +10 more
wiley   +1 more source

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype

Cells, 2022
Nephropathic cystinosis is a rare and severe disease caused by disruptions in the CTNS gene. Cystinosis is characterized by lysosomal cystine accumulation, vesicle trafficking impairment, oxidative stress, and apoptosis. Additionally, cystinotic patients
Elena Sendino Garví, Rosalinde Masereeuw, Manoe J. Janssen   +2 more
doaj   +1 more source

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

Nefrología (English Edition), 2015
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
doaj   +3 more sources

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam [PDF]

Türk Oftalmoloji Dergisi, 2017
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
Mahmut Ecel, Ayça Sarı, Ali Delibaş
doaj   +1 more source