Erfelijke aandoeningen van tubulaire resorptieprocessen, met nadruk op calcium- en magnesiumkanalen in de nier

Abstract

The kidney plays an important role in ion homeostasis in the human body. Several hereditary disorders characterized by perturbations of renal calcium and magnesium reabsorption were described over the past fifty years. Only recently, mutations in renal ion channels and transporters have been identified in several of these diseases. Our knowledge of the molecular mechanisms responsible for renal calcium and magnesium reabsorption is expanding, in part due to these advances in molecular genetics, revealing complex and tightly regulated processes adapting the reabsorption of these divalents to the body's requirements. This review describes this interaction between the elucidation of the physiological mechanisms involved in calcium and magnesium reabsorption and the emerging pathophysiological understanding of disorders in which renal handling of these divalent ions is disturbed. Therefore, this demonstrates that studying these relatively rare hereditary disorders can generate important novel insights in the identification of crucial (patho)physiological mechanisms.