Cystinosis

Cystinosis follows a pattern of autosomal recessive inheritance. This means that both parents of an affected child carry a faulty gene but don't have the disease themselves as they also have a normal gene to compensate.
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Cystinosis - an inherited disorder whereby the kidneys have excessive excretion or certain amino acids. This leads to severe kidney stones
What are the symptoms of kidney failure?
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Wilson's disease is treated with D-penicillamine, which binds excess copper in the blood.
Cystinosis is treated with cysteamine, which removes cystine from the body.
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Proximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use of nutrients. Examples include the rare disease cystinosis (in which cystine crystals are deposited in bones and other tissues), ...
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In this case, most of the protein is represented by low-molecular weight globulins that would be reabsorbed by normal tubules. Diseases that fall into this category include: pyelonephritis, Fanconi's syndrome, cystinosis, and Wilson's disease.
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