Child Kidney Dis.  2020 Oct;24(2):115-119. 10.3339/jkspn.2020.24.2.115.

A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis

Affiliations
  • 1Department of Pediatrics, Children Hospital, Vientiane, Lao PDR
  • 2Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
  • 3Department of Orthopedic Surgery, Seoul National University Children’s Hospital, Seoul, Korea
  • 4Department of Pediatrics, Korea University Guro Hospital, Seoul, Korea
  • 5Institute of Research and Education Development, University of Health Sciences, Ministry of Health, Vientiane, Lao PDR
  • 6Lao-Oxford-Mahosol Hospital Welcome Trust Research Unit, Mahosot Hospital, Vientiane, Lao PDR
  • 7Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom

Abstract

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

Keyword

Distal renal tubular acidosis; Failure to thrive; Bony deformity; Muscle paralysis
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