Hypophosphatemic rickets with hypercalciuria.
نویسندگان
چکیده
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...
متن کاملHereditary 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...
متن کاملRickets: not a disease of the past.
Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation. Nutritional rickets can be caused by inadequate intake of nutrients (vitamin D in particular); however, it is not uncommon in dark-skinned children who have limited sun exposure and in infants who are breastf...
متن کاملCinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate an...
متن کاملSLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
OBJECTIVE Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC34A3 gene that encodes the renal type 2c sodium-phosphate cotransporter. Our objective was to defi...
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عنوان ژورنال:
- Indian pediatrics
دوره 32 11 شماره
صفحات -
تاریخ انتشار 1995