The acidification defect in the syndrome of renal tubular acidosis with nerve deafness.
An 8-year-old boy with renal tubular acidosis and nerve deafness, has been followed for seven years. Repeated studies of his renal acidification defect showed that until the age of six years the tubular defect was mixed, proximal and distal (type 1,2 hybrid). After that age the defect of proximal acidification disappeared and the patient only presented a distal renal tubular acidosis type 1. When this is associated with nerve deafness, it is considered a distinct nosological entity.
D000136:Acid-Base Equilibrium; D000141:Acidosis, Renal Tubular / Q000235:genetics*; D001639:Bicarbonates / Q000378:metabolism; D002648:Child; D003638:Deafness / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008297:Male; D012964:Sodium / Q000378:metabolism; D013577:Syndrome
D001639:Bicarbonates; D012964:Sodium