Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children

Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It caused by mutations in the CTNS gene that encodes cystine transporter, cystinosin, which leads to accumulation. major cause of inherited Fanconi syndrome, should be suspected young children failure thrive signs renal proximal tubular damage. The diagnosis can missed infants, because not all syndrome are present during first months life. Elevated white blood cell content cornerstone diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) mainly produced activated macrophages both normal inflammatory conditions suggest cystinosis included within differential disorders associated increased plasma activity. This study aimed estimate serum level, as screening marker therapeutic monitor for Iraqi cystinosis.Subjects Methods: case-control samples 30 nephropathic cystinosis, compared 25 healthy control from those attending at Genetic Rare Diseases Center / AL-Emamain AL-Kadhimain Teaching Hospital, Baghdad-Iraq.Results: Our results reported cystinotic had marked elevation activity, age-matched children, besides significant leukocyte-cystine patients.CHT1 Novel BiomarkerConclusion: Estimation activity might aid monitoring benefits cysteamine therapy, well prognosis when WBC assessment available.Key Words: Cystinosis, Cysteamine, Chitotriosidase.