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        Less common disorders:F

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        佚名
         

         

        DISEASE AND CAUSES PATHOPHYSIOLOGY SIGNS AND SYMPTOMS
        Fanconi's syndrome  
        • Inherited renal tubular transport disorder
        Changes in the proximal renal tubules due to atrophy of epithelial cells and loss of proximal tube volume results in a shortened connection to glomeruli by an unusually narrow segment. Malfunction of the proximal renal tubules leads to hyperkalemia, hypernatremia, glycosuria, phosphaturia, aminoaciduria, uricosuria, retarded growth, and rickets. Mostly normal appearance at birth with slightly lower birth weights
        • After 6 months: weakness, failure to thrive, dehydration, cystine crystals in the corners of the eye, and retinal pigment degeneration
        • Yellow skin with little pigmentation
        • Slow linear growth

         

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