Dent Disease and Lowe Syndrome

Co se diagnózou změní

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

Analyzované geny

Známé také jako

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

Co se diagnózou změní

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

Analyzované geny

Známé také jako

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