Autosomal recessive proximal renal tubular acidosis
Autosomal recessive proximal renal tubular acidosis
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.
Also known as AR pRTA, proximal renal tubular acidosis with ocular abnormalities and intellectual disability, proximal renal tubular acidosis, autosomal recessive, renal tubular acidosis, proximal, with ocular abnormalities — per MONDO