Dent Disease 1

Description

The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (OMIM ), X-linked recessive hypophosphatemic rickets (OMIM ), and low molecular weight proteinuria (OMIM ). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004).Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. Genetic Heterogeneity of Dent DiseaseSee also Dent disease-2 (OMIM ), caused by mutation in the OCRL gene (OMIM ) on chromosome Xq26.

Clinical Features

• Short stature
• Renal insufficiency
• Proteinuria
• Recurrent fractures
• Nephrolithiasis
• Bone pain
• Aminoaciduria
• Nephrocalcinosis
• Chronic kidney disease
• Hypercalciuria

And another 22 symptoms. If you need more information about this disease we can help you.