New RaDaR conditions

Posted on: 29.10.19 | Posted in News, RaDaR, RDGs, Research

The Hypokalaemic Alkaloses cohort has been renamed Tubulopathy. It now includes the following conditions:

  • Autoimmune distal renal tubular acidosis
  • Autosomal dominant distal renal tubular acidosis
  • Autosomal recessive distal renal tubular acidosis
  • Autosomal recessive distal renal tubular acidosis
  • Bartter Syndrome type 1
  • Bartter Syndrome type 2
  • Bartter Syndrome type 3
  • Bartter Syndrome type 4
  • Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  • Drug induced Fanconi syndrome
  • Drug induced hypomagnesemia
  • Drug induced Nephrogenic Diabetes Insipidus
  • EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy)
  • Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis CLDN16/19
  • Familial primary hypomagnesemia with hypocalcuria FXYD2
  • Familial primary hypomagnesemia with normocalcuria EGF
  • Familial renal glucosuria SLC5A2
  • Fanconi Renotubular syndrome 1 (FRTS1)
  • Fanconi Renotubular syndrome 2 (FRTS2)
  • Fanconi Renotubular syndrome 3 (FRTS3)
  • Generalized pseudohypoaldosteronism type 1
  • Gitelman Syndrome
  • Heavy metal induced Fanconi syndrome
  • Hereditary renal hypouricemia
  • Hereditary hypophosphatemic rickets with hypercalciuria
  • Isolated autosomal dominant hypomagnesemia, Glaudemans type
  • Liddle syndrome
  • Nephrogenic diabetes insipidus
  • Nephrogenic syndrome of inappropriate antidiuresis
  • Oncogenic osteomalacia
  • Osteopetrosis with renal tubular acidosis
  • Primary hypomagnesemia with secondary hypocalcemia
  • Pseudohypoaldosteronism type 2A
  • Pseudohypoaldosteronism type 2B
  • Pseudohypoaldosteronism type 2C
  • Pseudohypoaldosteronism type 2E
  • Renal pseudohypoaldosteronism type 1

A precise diagnosis will need to be selected when entering these patients in RaDaR.