This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The

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syndrome d'insuffisance rénale tubulaire-cardiomyopathie

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Familial hypocalciuric hypercalcaemia Idiopathic hypercalciuria

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Hypercalcémie hypocalciurique familiale Hypercalciurie idiopathique

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A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain tha

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rachitisme hypophosphatémique héréditaire avec hypercalciurie

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D'autres ont cherché : familial hypocalciuric hypercalcaemia idiopathic hypercalciuria absorptive hypercalciuria hypercalcinuria hypercalciuria idiopathic hypercalciuria renal-leak hypercalciuria Hypercalciuria

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Date index: 2023-03-28