Results 101 to 110 of about 1,953 (203)

Nephropathic cystinosis in children: An overlooked disease

Saudi Journal of Kidney Diseases and Transplantation, 2009
Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children ...
Soliman Neveen, El-Baroudy Ramzi, Rizk Akmal, Bazaraa Hafez, Younan Amal   +4 more
doaj  

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Fertility management in cystinosis: A clinical perspective [PDF]

Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Atherton, Andrea M, Delos Santos, Rowena B, Ghossein, Cybele, Langman, Craig B, Levtchenko, Elena N, Servais, Aude   +5 more
core   +2 more sources

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source

Kidney involvement in rare hereditary diseases

Терапевтический архив
Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors.
Sergey V. Moiseev, Eugene M. Shilov
doaj   +1 more source

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]

Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Bellomo, Francesco, Caiello, Ivan, De Benedetti, Fabrizio, De Leo, Ester, Devuyst, Olivier, Diomedi-Camassei, Francesca, Emma, Francesco, Lamkanfi, Mohamed, Loricchio, Elena, Matteo, Valentina, Prencipe, Giusi, Rossi, Marianna Nicoletta, Taranta, Anna   +12 more
core   +2 more sources

Successful Management of a Neglected Case of Nephropathic Cystinosis

Sultan Qaboos University Medical Journal, 2014
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-
Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth   +4 more
doaj   +2 more sources

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Perspectives From Cystinosis: Access to Healthcare May Be a Confounding Factor for Variant Classification [PDF]

Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Elenberg, Ewa, Scaglia, Fernando, Schumaker, Fredrick R, Stark, Louisa, Tomaszewski, Alicja, Wu, Chen-Han Wilfred   +5 more
core   +2 more sources