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X-linked recessive nephrolithiasis with renal failure

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Description

X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.

OMIM

  • Mode of Inheritance

  • X-linked recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    310468

  • Orphanet
  • HPO
  • Medgen

    C0403720

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