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Up to: Inborn errors of metabolism · Autosomal recessive disease · Inherited renal tubular disease · Proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.

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