Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It 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. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammatory conditions which suggest that cystinosis should be included within the differential diagnosis of disorders associated with increased plasma chitotriosidase activity. This study is aimed to estimate serum chitotriosidase level, as a screening marker and therapeutic monitor for cystinosis disease in Iraqi children with cystinosis.
Subjects and Methods: The present study is a case-control study that included samples of 30 children with nephropathic cystinosis, compared to 25 healthy control children from those attending at The Genetic Rare Diseases Center / AL-Emamain AL-Kadhimain Teaching Hospital, Baghdad-Iraq.
Results: Our results reported that cystinotic children had a marked elevation of serum chitotriosidase activity, compared to age-matched healthy children, besides a significant associated with leukocyte-cystine content for cystinotic patients.
CHT1 as a Novel Biomarker
Conclusion: Estimation of serum chitotriosidase activity might aid in monitoring the therapeutic benefits of cysteamine therapy, as well as the prognosis of the disease when WBC cystine assessment is not available.
Key Words: Cystinosis, Cysteamine, Chitotriosidase.
The manuscript should contain an abstract. The abstract should be self-contained and citation-free and should not exceed 200 words. The abstract should state the purpose, approach, results and conclusions of the work. The author should assume that the reader has some knowledge of the subject but has not read the paper. Thus, the abstract should be intelligible and complete in it-self (no numerical references); it should not cite figures, tables, or sections of the paper. The abstract should be written using third person instead of first perso The fast microwave assisted pyrolysis (FMWAP) of water hyacinth (WH) for biochar production is investigated. Taguchi’s method was used to optimize FMWAP parameters. The effects of microwave
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People with diabetes can develop different foot problems. In the blood stream glucose reacts with hemoglobin to make a glycosylated hemoglobin molecule called hemoglobin A1c or HbA1c, the more glucose in the blood the more hemoglobin A1c will be present in the blood. The HbAlc test is currently one of the best ways to check diabetes to be under control. The aim of study is to compare between the blood investigations which includes the fasting blood sugar and HbAlC (glycosylated hemoglobin), and to evaluate the benefit of HbAlc (measurement for diabetic patients with foot ulcer, to be a good indicator for controlling blood glucose). Sixty patients with type2 diabetes mellitus from the outpatient clinic of Baghdad Teachin
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