低リン血症性くる病 [DS:H00214] X 連鎖性高カルシウム尿腎結石症 [DS:H02149]
概要
X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for phosphate reabsorption. But a number of features were atypical of X-linked dominant hypophosphatemic rickets. For example, they have hypercalciuria, and high levels of 1,25- dihydroxyvitamin D. Mutations in the CLCN5 gene have been reported to be associated with XLRH.
