Cistinose nefropática: diferentes apresentações clínicas Nephropathic cystinosis: different clinical presentations Cistinosis nefropática: presentaciones clínicas diferentes

May 26, 2017 | Autor: Maria Vaisbich | Categoría: Physical examination, Clinical Presentation, Laboratory Tests, Therapeutic Use, Early Diagnosis
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Objective: to draw pediatrician's attention to different clinical presentations of nephropathic cystinosis. Description: the clinical history, physical examination and laboratorial tests of three patients with nephropathic cystinosis were reported. The first patient was seen with muscular weakness (by hypopoptassemia), the second presented a nephropatic rickets, and the third had severe dehidratation. Conclusions: the different clinical presentations result from metabolic and
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