Case Report and Summary of Hypophosphatemic Rickets

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.

Autorentext

Karolina Horner wurde 1980 in Wien geboren. 2007 schloß sie ihr Medizinstudium mit der vorliegenden Dissertation ab. Anschließend arbeitete sie als wissenschaftliche Mitarbeiterin auf der Universitätsklinik für Kinderheilkunde in Wien und absolviert derzeit einen Teil ihrer Ausbildung bei einem niedergelassenen Kinderarzt.

Klappentext
Hypophosphatemia due to chronically increased renal phosphate clearance leads to variable bone diseases such as rickets and osteomalacia. The most common inherited form of hypophosphatemia is X-linked hypophosphatemic rickets. Other inherited forms of the disease are autosomal dominant and recessive hypophosphatemic rickets. This work should give a summary of the latest findings in this hypophosphatemic disease and discusses reasons which lead to the illness. A lot of patients and also the two brothers who were discussed in this case report have clear hypophosphatemic symptoms but no genetic reasons were found. This disease gives also new cognitions about phosphate homeostasis, althoug a lot of questions still remain.