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Boletín Médico del Hospital Infantil de México

2013, Number 6

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Bol Med Hosp Infant Mex 2013; 70 (6)

Hereditary hypophosphatemic rickets

Velásquez-Jones L, Medeiros-Domingo M

Language: Spanish
References: 57
Page: 421-431
PDF size: 408.36 Kb.


ABSTRACT

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 hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets types 1 and 2 and the hereditary hypophosphatemic rickets with hypercalciuria. This article reviews the genetic basis of the different types of HHR, clinical manifestations, biochemical characteristics in blood and urine and new aspects of treatment.


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