Hypophosphatemic rickets after ifosfamide treatment.

Hypophosphatemic rickets with hypercalciuria.

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...

Hypophosphatemic rickets and osteomalacia.

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...

Case in Point: Hypophosphatemic Rickets

The child had been born to a 19-year-old gravida 2, para 2 mother via cesarean birth secondary to malpresentation and fetal distress. The child weighed 3.06 kg at birth. She currently weighed 6 kg (5th percentile); she was 62 cm tall (5th to 25th percentile); head circumference, 46 cm (95th percentile or higher). Laboratory findings: calcium, 9.7 mg/dL; phosphorus, 2.8 mg/dL, immunoreactive par...

Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets.

BACKGROUND AND OBJECTIVES The treatment for X-linked hypophosphatemia (XLH) with phosphate and calcitriol can be complicated by secondary hyperparathyroidism and nephrocalcinosis. Furthermore, vitamin D and phosphate stimulate FGF23 production, the pathogenic factor causing XLH. We investigated in XLH patients: 1) whether treatment with the calcimimetic agent, cinacalcet, will block the rise in...