X-linked recessive hypophosphatemic rickets
Definition:
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.
References:
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[1]. E Schulze-Bahr, et al. Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet. 1997 Oct;100(5-6):573-6. [Content Brief]
[2]. S J Scheinman, et al. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 1998 Jan;53(1):3-17. [Content Brief]
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