X-linked recessive nephrolithiasis with renal failure
Definition:
X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, CLCN5.
References:
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[1]. 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]
[2]. S J Schurman, et al. X-linked recessive nephrolithiasis: presentation and diagnosis in children. J Pediatr. 1998 May;132(5):859-62. [Content Brief]
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