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Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism caused by mutations in the ATP7B gene. ATP7B is also essential for biliary excretion of copper when cytoplasmic levels are high. Dysfunction of ATP7B therefore leads to accumulation of copper in the liver giving rise to cellular damage and disease, and the release of non-ceruloplasmin bound copper into the systemic circulation. Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straight forward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease. To overcome the diagnostic challenge, several clinical signs (Kayser-Fleischer rings(KF.), neurologic symptoms) and laboratory features (copper in serum, urine, liver; serum ceruloplasmin; genetic testing) are scored 0 (absent) to 2 (present) and the Leipzig score is calculated. If the score is >4, the diagnosis of Wilson disease is very likely. For asymptomatic siblings of index patients, mutation analysis is the most reliable approach. [ABSTRACT FROM AUTHOR]

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 corner stone for the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammatory conditions. Which suggests that cystinosis should be included in the differential diagnosis of disorders with increased plasma chitotriosidase activity. This study is aimed to investigate the impact of cystinosis on the renal function in relation to age at detection and initiation of treatment course,besides estimating serum chitotriosidase level,as a screening marker and therapeutic monitor for cystinosis disease in Iraqi children with cystinosis. The present study is a case-control study included a 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. Our results report patients who started taking the medication (cysteamine) before two years of age were presented with significantly lower levels of cystine and chitotriosidase in addition to better renal function (higher GFR) (P-value = 0.0001) .In other words, earlier treatment led to better disease control and less deterioration of renal function. In conclusion serum chitotriosidase activity estimation might aid in monitoring therapeutic benefit of cysteamine therapy and the prognosis of the disease when WBC cystine assessment is not available. [ABSTRACT FROM AUTHOR]