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Autosomal dominant proximal renal tubular acidosis
rareAutosomal 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.
- Identifiers
- MONDO:0017829 Orphanet:314889
- Part of
- Autosomal dominant diseaseInborn errors of metabolismInherited renal tubular diseaseProximal renal tubular acidosis
- Also known as
- AD pRTA · proximal renal tubular acidosis, autosomal dominant
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