Inherited Disorders of Renal Magnesium Handling

Abstract

Magnesium (Mg2+) depletion usually occurs secondary to another disease process or to a therapeutic agent. During infancy and childhood, a substantial proportion of patients receiving medical attention for signs of hypomagnesemia is affected by inherited renal disorders associated with Mg2+ wasting. In these disorders, hypomagnesemia either may be a leading symptom or may be part of a complex phenotype resulting from tubular dysfunction, as detailed below. Advances in molecular genetics of hereditary hypomagnesemia substantiated the role of a variety of genes and their encoded proteins in human epithelial Mg2+ transport, and helped to characterize different clinical subtypes of hereditary Mg2+-wasting. A careful clinical and biochemical assessment allows to distinguish the different disease entities in most cases, even when there is a considerable overlap in the phenotypic characteristics.