"hypercalciuric hypophosphatemic rickets "

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...

Hypophosphatemic Rickets and its Dental Significance

I read with interest Rabbani et al’s paper entitled “Dental problems in hypophosphatemic rickets, a cross sectional study” in the fourth issue of Iran J Pediatr 2012[1]. Clinical oral manifestations of hypophosphatemic rickets often include premature tooth exfoliation, hypoplastic enamel and dental infections. Apical rarefaction, rickety bone trabeculation and absent or abnormal lamina dura are...

X-linked hypophosphatemic rickets: case report.

INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...