Metabolic disorders, renal manifestation

Two inherited human diseases that represent abnormal copper metabolism are Menkes syndrome and Wilson s disease. Menkes syndrome, with symptoms similar to those of copper deficiency, is characterized by a progressive brain disease, abnormally low copper concentrations in Uver and other tissues, and diminished ability to transfer copper across the absorptive cells of the intestinal mucosa. Wilson s disease (hepatolenticular degeneration) is the only significant example of copper toxicity in humans. Wilson s disease is an autosomal recessive disorder that affects normal copper homeostasis and is characterized by excessive retention of hepatic copper, decreased concentration of serum ceruloplasmin, impaired biliary copper excretion, and hypercupremia. Systemic manifestations of Wilson s disease are hepatic and renal lesions and hemol5dic anemia. Certain strains of mutant rats with reduced excretion of... 

Calcium metabolism is disregulated in active sarcoidosis. The primary disorder in calcium metabolism stems from an increase 1-a hydroxylase activity in sarcoid alveolar macrophages that converts 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D, the active form of the vitamin (177-179). This may manifest as hypercaluria, hypercalcemia, and nephrolithiasis with possible renal insufficiency (180). 

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