autosomal dominant proximal renal tubular acidosis
Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0008369
proximal renal tubular acidosis
is_a
MONDO:0015962
inherited renal tubular disease
is_a
MONDO:0019052
inborn errors of metabolism
is_a
AD pRTA
exact
proximal renal tubular acidosis, autosomal dominant
exact