X-linked recessive hypophosphatemic rickets is caused by mutation in the CLCN5 and maybe also OCRL gene. The clinical picture is similar to Dent disease with major emphasis on phosphate and bone metabolism.
Fanconi-type hypophosphatemic rickets | ||||
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | ||||
X-linked recessive hypophosphatemic rickets | ||||
CLCN5 | ||||
OCRL | ||||
1. |
Bolino A et al. (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. |
2. |
Lloyd SE et al. (1996) A common molecular basis for three inherited kidney stone diseases. |
3. |
Oudet C et al. (1997) A second family with XLRH displays the mutation S244L in the CLCN5 gene. |
4. |
None (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. |
5. |
Gambaro G et al. (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. |
6. |
OMIM.ORG article Omim 300554 |