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Kidney Stone Genetics.pdf

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Preview of Kidney Stone Genetics
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📄 Pages: 4 pages
⬇️ Downloads: 128

Summary

Idiopathic hypercalciuria (ADCY10, AD),
Autosomal dominant hypocalcaemia (CASR, GNA11, AD),
Bartter syndrome (NKCC2, ROMK, CLCNKB, BSND, CASR, CLCN5, AR and AD),
Dent disease (CLCN5, OCRL, XLR),
Hereditary hypophosphataemic rickets with hypercalciuria (SLC34A3, AR),
Hypophosphataemia and nephrolithiasis (SLC34A1, SLC9A3R1, AD),
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (CLDN16, CLDN19, AR),
Autosomal dominant and recessive distal renal tubular acidosis (SLC4A1, ATP6V1B1, ATP6V0A4, CA2, WDR72, FOXI1, AD and AR),
Infantile hypercalcaemia (CYP24A1, SLC34A1, AR),
Primary hyperoxaluria (AGXT, GRHPR, HOGA1, SLC26A1, AR),
Cystinuria (SLC3A1, SLC7A9, AR and AD),
Lesch–Nyhan or Kelley–Seegmiller syndrome (HPRT1, XLR),
PRPPS superactivity (PRPS1, XLR),
Renal hypouricaemia (SLC22A12, SLC2A9, AR and AD),
Hereditary xanthinuria (XDH, MOCOS, AR),
Molybdenem cofactor deficiency (MOCS1, MOCS2, GPHN, AR),
Adenine phosphoribosyltransferase deficiency (APRT, AR).

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Description

Idiopathic hypercalciuria (ADCY10, AD),
Autosomal dominant hypocalcaemia (CASR, GNA11, AD),
Bartter syndrome (NKCC2, ROMK, CLCNKB, BSND, CASR, CLCN5, AR and...

Technical Information

  • File Format: PDF
  • File Size: 403 KB
  • Pages: 4
  • Language: EN
  • Total Downloads: 128
  • Last Updated: 1 month ago

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