Case Report and Summary of Hypophosphatemic Rickets
Molecular Genetic Findings in Two Brothers with PHEXNegative Hypophosphatemic Rickets
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Hypophosphatemia due to chronically increased renalphosphate clearance leads to variable bone diseasessuch as rickets and osteomalacia. The most commoninherited form of hypophosphatemia is X-linkedhypophosphatemic rickets. Other inherited forms ofthe disease are autosomal dominant and recessivehypophosphatemic rickets.This work should give a summary of the latestfindings in this hypophosphatemic disease anddiscusses reasons which lead to the illness. A lot ofpatients and also the two brothers who were discussedin this case report have clear hypophosphatemicsymptoms but no genetic reasons were ...
Hypophosphatemia due to chronically increased renalphosphate clearance leads to variable bone diseasessuch as rickets and osteomalacia. The most commoninherited form of hypophosphatemia is X-linkedhypophosphatemic rickets. Other inherited forms ofthe disease are autosomal dominant and recessivehypophosphatemic rickets.This work should give a summary of the latestfindings in this hypophosphatemic disease anddiscusses reasons which lead to the illness. A lot ofpatients and also the two brothers who were discussedin this case report have clear hypophosphatemicsymptoms but no genetic reasons were found. Thisdisease gives also new cognitions about phosphatehomeostasis, althoug a lot of questions still remain.
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