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Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups. [5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples. [5]
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome.
Osteonecrosis is also associated with cancer, lupus, sickle cell disease, [11] HIV infection, Gaucher's disease, and Caisson disease (dysbaric osteonecrosis). [1] [12] Bisphosphonates are associated with osteonecrosis of the mandible (jawbone). [13] The condition may also occur without any clear reason. [1]
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
Cancer in children is rare in the UK, with an average of 1,800 diagnoses every year but contributing to less than 1% of all cancer-related deaths. [70] Age is not a confounding factor in mortality from the disease in the UK. From 2014 to 2016, approximately 230 children died from cancer, with brain/CNS cancers being the most commonly fatal type.
The survival rate for children under the age of 15 years with AML was 66.4% in the USA between 2007 and 2013. This is lower than the rates for ALL. [29] Prognostic factors for AML: Age at diagnosis: Children under 2 years old may have a better prognosis than older children. However, how strong this link is is unclear.