Inherited Disorders of Renal Calcium Handling

Abstract

Human calcium homeostasis is maintained by a complex interplay of different hormonal systems controlling intestinal calcium uptake, renal calcium excretion, and calcium transport in bone and soft tissues. Changes in renal calcium handling may either reflect a renal compensation for disturbances in body calcium homeostasis or its hormonal regulation, or a primary defect in renal tubular calcium transport. Irrespective of the underlying etiology, hypercalciuria represents a major risk factor for renal calcifications and kidney stone disease requiring a thorough diagnostic workup. Especially in infants and young children, hereditary disorders of calcium metabolism and tubular calcium reabsorption have to be considered in the differential diagnosis. The elucidation of the underlying genetic etiology might directly affect the management of affected children.