Tang Hospital

Severe skeletal and renal complications in SLC4A1-related distal renal tubular acidosis following prolonged treatment interruption: a case report highlighting transition-related vulnerability

Abstract Background SLC4A1-related distal renal tubular acidosis (dRTA), caused by dysfunction of the anion exchanger 1 (AE1), is typically associated with a relatively mild and late-onset phenotype. However, outcomes may vary substantially, particularly in the setting of delayed...