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Unrecognized juvenile nephropathic cystinosis. 2018

Jan Schiefer, and Martin Zenker, and Hermann-Josef Gröne, and Christos Chatzikyrkou, and Peter Rene Mertens, and Vassilios Liakopoulos
University Clinic for Nephrology and Hypertension, Diabetes and Endocrinology, Otto-von-Guericke-University, Magdeburg, Germany. Electronic address: jan.schiefer@med.ovgu.de.

UI MeSH Term Description Entries
D008297 Male Males
D009404 Nephrotic Syndrome A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction. Childhood Idiopathic Nephrotic Syndrome,Frequently Relapsing Nephrotic Syndrome,Multi-Drug Resistant Nephrotic Syndrome,Pediatric Idiopathic Nephrotic Syndrome,Steroid-Dependent Nephrotic Syndrome,Steroid-Resistant Nephrotic Syndrome,Steroid-Sensitive Nephrotic Syndrome,Multi Drug Resistant Nephrotic Syndrome,Nephrotic Syndrome, Steroid-Dependent,Nephrotic Syndrome, Steroid-Resistant,Nephrotic Syndrome, Steroid-Sensitive,Nephrotic Syndromes,Steroid Dependent Nephrotic Syndrome,Steroid Resistant Nephrotic Syndrome,Steroid Sensitive Nephrotic Syndrome,Steroid-Dependent Nephrotic Syndromes,Steroid-Resistant Nephrotic Syndromes,Steroid-Sensitive Nephrotic Syndromes,Syndrome, Nephrotic,Syndrome, Steroid-Sensitive Nephrotic
D003554 Cystinosis A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. Cystine Diathesis,Cystine Disease,Cystine Storage Disease,Cystinoses,Cystinosin, Defect of,Cystinosis, Nephropathic,Lysosomal Cystine Transport Protein, Defect Of,Nephropathic Cystinosis,Cystine Diatheses,Cystine Diseases,Cystine Storage Diseases,Cystinoses, Nephropathic,Defect of Cystinosin,Diatheses, Cystine,Diathesis, Cystine,Nephropathic Cystinoses,Storage Disease, Cystine,Storage Diseases, Cystine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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