Svensk definition
En ärftlig sjukdom som kännetecknas av hypofosfatemi med minskat återupptag av oorganiskt fosfor i njurkanalerna. Den åtföljs ibland av osteomalaci eller rakit, som inte svarar på den vanliga behandlingen med D-vitamin.
Hypophosphatemia, Familial
Familjär hypofosfatemi
Engelsk definition
An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.
Svenska synonymer
Fosfaturi — Hyperfosfaturi — Fosfatdiabetes
Engelska synonymer
Familial Hypophosphatemias — Hypophosphatemias, Familial — Familial Hypophosphatemia — Phosphaturia — Hyperphosphaturia — Diabetes, Phosphate — Phosphate Diabetes