/autosomal recessive proximal renal tubular acidosis

autosomal recessive proximal renal tubular acidosis

Rare Disease

MONDO:0011422

Also Known As

AR pRTAproximal renal tubular acidosis with ocular abnormalities and intellectual disabilityproximal renal tubular acidosis, autosomal recessiverenal tubular acidosis, proximal, with ocular abnormalitiesRTA, proximal, autosomal recessiverenal tubular acidosis, proximal, with ocular abnormalities and intellectual disabilityrenal tubular acidosis, proximal, with ocular abnormalities and mental retardation

Definition

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.