Long-term follow-up in distal renal tubular acidosis with sensorineural deafness

Pediatr Nephrol. 2000 Nov;15(1-2):63-5. doi: 10.1007/pl00013449.

Abstract

A 20-year-old man presented with failure to thrive and bilateral genu valgum. On the basis of growth failure, skeletal deformity, hyperchloremic metabolic acidosis with alkaline urine and hypokalemia, nephrocalcinosis, and hearing loss, a diagnosis of distal renal tubular acidosis (DRTA) with sensorineural deafness was made. The genu valgum was treated by corrective osteotomy. Skeletal deformity was corrected and impaired growth improved after sustained therapy of metabolic acidosis with alkali supplementation. During an 8-year follow-up period the patient's glomerular filtration rate remained stable, the nephrocalcinosis did not progress, and his height increased 10 cm. Although nephrolithiasis led to atrophy of the right kidney, at last follow-up, when the patient was 44 years old, his creatinine clearance was 50 ml/min per 1.73 m2 body surface.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / complications
  • Acidosis, Renal Tubular / diagnosis*
  • Acidosis, Renal Tubular / therapy
  • Adult
  • Failure to Thrive / complications
  • Failure to Thrive / etiology*
  • Follow-Up Studies
  • Glomerular Filtration Rate
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / diagnosis*
  • Humans
  • Kidney Tubules, Distal*
  • Knee Joint / abnormalities*
  • Knee Joint / surgery
  • Male
  • Osteotomy
  • Time Factors
  • Treatment Outcome