Dent Disease and Lowe Syndrome

Mit változtat a diagnózis

Knowing allows monitoring and measures to reduce urine calcium and slow kidney damage, and testing of female relatives who may be carriers.

Vizsgált gének

Más néven

Dent disease 1; Dent disease 2; Dent syndrome; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; renal Fanconi syndrome with nephrocalcinosis and renal stones; X-linked recessive hypercalciuric hypophosphatemic rickets; X-linked recessive hypophosphatemic rickets; X-linked recessive nephrolithiasis

Mit változtat a diagnózis

Knowing guides eye, developmental and kidney care, and carrier females can be offered an eye examination.

Vizsgált gének

Más néven

Lowe disease; Lowe oculo-cerebro-renal syndrome; Lowe oculocerebrorenal syndrome; Lowe syndrome; Lowe syndrome, X-linked recessive; OCR; OCRL; oculo-cerebro-renal dystrophy; oculo-cerebro-renal syndrome; oculocerebrorenal dystrophy; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency