Results 11 to 20 of about 2,800 (183)

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives [PDF]

Cells, 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 ...
Marco Pennesi, Silvia Rossi, Bianca Maria Goffredo   +2 more
exaly   +3 more sources

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   +3 more sources

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease

Frontiers in Pediatrics, 2018
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj   +2 more sources

Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis

JIMD Reports, 2023
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt, Kaja Kristensen, Katharina Hohenfellner, Julia Quitmann   +3 more
doaj   +2 more sources

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   +2 more sources

Skeletal Consequences of Nephropathic Cystinosis [PDF]

Journal of Bone and Mineral Research, 2018
ABSTRACT   Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders
Florenzano Valdés, Pablo Felipe, Ferreira, Carlos, Nesterova, Galina, Roberts, Mary Scott, Harsha Tella, Sri, Fernández de Castro, Luis, Brown, Sydney M., Whitaker, Adom, Pereira, Renata C., Bulas, Dorothy, Gafni, Rachel I., Salusky, Isidro B., Gahl, William A., Collins, Michael T.   +13 more
openaire   +4 more sources

Nephropathic Cystinosis : First reported case in Oman [PDF]

Sultan Qaboos University Medical Journal, 2011
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj   +1 more source

Crystalline keratopathy in nephropathic cystinosis. [PDF]

Sudan J Paediatr, 2019
A 3-year-old male child presented with complaints of poor weight gain, delayed motor milestones since 1 year of age and features suggestive of rickets (wrist widening, bowing of legs and Harrison’s sulcus). He was third born of a third degree consanguineous marriage, had polyuria, with investigations revealing proximal renal tubular acidosis and ...
Priyanka, Bhatt GC, Kumar A, Takkar B.
europepmc   +4 more sources

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +6 more sources

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +2 more sources