Results 41 to 50 of about 1,618 (169)

Novel mechanism for tubular injury in nephropathic cystinosis. [PDF]

Elife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 more
europepmc   +4 more sources

Fertility in cystinosis [PDF]

, 2021
Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Besouw, Martine, Reda, Ahmed, Veys, Koenraad   +2 more
core   +3 more sources

Cystinosis: practical tools for diagnosis and treatment [PDF]

, 2011
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage.
A Caltik, A Chabli, A Graaf-Hess, A Servais, AA Greene, AM Chan, B Buchan, B Fivush, B Fowler, BC Sonies, C Ged, C Loirat, CB Langman, CE Kashtan, CF Dogulu, CP Mahoney, DA Beckman, DA Trauner, DG Vogel, DS Theodoropoulos, E Elenberg, E Levtchenko, E Levtchenko, E Levtchenko, E Wuhl, EB Belldina, Elena N. Levtchenko, EM Fernandez-Valero, EN Levtchenko, ET Tsilou, ET Tsilou, F Tietze, G Bocca, G Delgado, G Fanconi, G Nesterova, GS Spear, J Brodehl, JA Schneider, JA Schneider, JA Schneider, JH Ehrich, Joost P. Schoeber, JW Touchman, K Syres, L Forestier, L Winkler, Lambertus P. van den Heuvel, M Beck, M Besouw, M Besouw, M Broyer, M Jackson, M Pennesi, M Town, MA Alcantara-Ortigoza, MA Saleem, Martijn J. Wilmer, MB Stokes, MC Gubler, MI Kaiser-Kupfer, MJ Wilmer, MT Besouw, PJA Zimakas, R Dohil, R Dohil, R Kleta, R Middleton, RG Oshima, S Bava, S Kornfeld, SL Nichols, SP Rigden, TC Markello, V Kalatzis, VE Kimonis, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, WA Gahl, Y Anikster, Y Anikster, Y Anikster   +84 more
core   +16 more sources

Infantile nephropathic cystinosis [PDF]

Kidney International, 2008
CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Stokes, M.B., Jernigan, S., D'Agati, V.D.   +2 more
openaire   +2 more sources

mTOR signaling in renal ion transport

Acta Physiologica, Volume 238, Issue 1, May 2023., 2023
Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley   +1 more source

Cellular and Molecular Mechanisms of Nephropathic Cystinosis [PDF]

, 2022
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2).

core   +1 more source

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge

CEN Case Reports, 2022
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, hypokalemia ...
B. Deepthi, S. Krishnamurthy, Pediredla Karunakar, G. Barathidasan, T. N. Rajavelu   +4 more
semanticscholar   +3 more sources

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

Spectrum of histopathological findings in pediatric renal biopsies; a five-year single center experience in Egypt [PDF]

Journal of Nephropathology, 2023
Introduction: Medical renal diseases stand as one of the major health problems in pediatric age group considering its morbidity/mortality and the subsequent management plans.
Wael Mostafa Hamza, Ahmed Fayed, Amr Mohamed Shaker, Mahmoud Mohamed El Nokeety   +3 more
doaj   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]

JIMD Rep
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Taj R, Ng K, Cuddapah SR, Rand EB, Bleicher M, Amaral S, Hoteit MA, Reddy RK, Feyssa E, Furth EE, Olthoff KM, Abu-Gazala S, Levine MH, Vyas F, Abt PL.   +14 more
europepmc   +2 more sources