Hereditary hypophosphatemic rickets
نویسندگان
چکیده
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.
منابع مشابه
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to stimulate 1,25 dihydroxyvitamin D synthesis which, in turn, results in hypercalciuria. Hereditary hypophosphatemic rickets with hypercalciuria...
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