Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3

X-Linked Hypophosphatemia: Progress in Characterization of Genetic and Metabolic Defects

“…Some patients with renal hypophosphatémie rickets, especially those with vitamin D-induced hypercalciuria [10], can benefit from adjunct therapy with diuretics, depending on the magnitude of extracellular fluid vol ume contraction. In a controlled study of 5 patients, we have shown that administration of diuretics (hydrochlorothiazide 1.5-2.25 m g/kg/day plus amiloride I mg/5 mg hydrochlorothiazide) resulted in marked elevation of the serum phosphorus concentration and the tubular threshold of phosphate plus significant reduction in urinary calcium excretion [37].…”

“…Significant beneficial effects including growth accel eration can be achieved in children with X-linked renal hypophosphatémie rickets by treatment with calcitriol and phosphate supplementation [8][9][10][11][12]. But the incidence of complications remains remarkably high [5,10].…”

Tubular Disorders of Acid-Base and Phosphate Metabolism

“…With the development and therapeutic availability of the most active vitamin D metabolites such as 1,25-(OH)2D\ and its analogue la(OH)D,, it becomes readily apparent that the use of such metabolites in combination with oral phosphate supplementation is currently the best treatment for the disease [135,169,170], Calcitriol [l,25(OH):D3] having a half-life of several hours is much safer than vitamin D and episodes of hypercalcemia can be treated more easily and effectively by stopping the medication. Treatment with active vitamin D metabolites and phosphate supplementation improves intestinal ab sorption of phosphate and calcium resulting in positive mineral balances, and enhances linear growth velocity and healing of rickets [135,[169][170][171].…”

“…Treatment with active vitamin D metabolites and phosphate supplementation improves intestinal ab sorption of phosphate and calcium resulting in positive mineral balances, and enhances linear growth velocity and healing of rickets [135,[169][170][171]. With reference to the renal handling of phosphate, the available data are conflicting.…”

The Effect of Growth Hormone Treatment on Biochemical Indices in Hypophosphatemic Rickets

“…The conventional therapy of HR consists of active forms of vitamin D plus inorganic oral P salts [2, 3, 4]. Such therapy may sometimes be unsuccessful in normalizing the clinical and biochemical findings in HR due to compliance problems with frequent doses of P, adverse effects such as secondary hyperparathyroidism, hypercalciuria, and nephrocalcinosis [5, 6, 7, 8, 9].…”