Childhood Kidney Diseases

  • 제24권2호
  • /
  • Pages.115-119
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  • 2020
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis

  • Kedsatha, Philavanh (Department of Pediatrics, Children Hospital) ;
  • Shin, Hee Young (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Choi, Yong (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Cho, Tae-Joon (Department of Orthopedic Surgery, Seoul National University Children's Hospital) ;
  • Yi, Eunsang (Department of Pediatrics, Korea University Guro Hospital) ;
  • Maisai, Mayfong (Institute of Research and Education Development, University of Health Sciences, Ministry of Health)
  • 투고 : 2020.06.30
  • 심사 : 2020.09.08
  • 발행 : 2020.10.31
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초록

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.

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참고문헌

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