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Genetics in Tubulopathies

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Dr Tushar Dighe, Chandigarh    29 November 2019

  • Considerable progress in molecular basis of several inherited renal tubule disorders has been made.
  • Any infant with failure to thrive early-always think of renal tubular acidosis (RTA).
  • All modes of inheritances are possible.
  • In distal RTA-urine pH will always be >5.5.
  • In proximal RTA, pH can be low or high but will never be low if serum bicarbonate is high.

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