A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis
10.3339/jkspn.2020.24.2.115
- Author:
Philavanh KEDSATHA
1
;
Hee Young SHIN
;
Yong CHOI
;
Hae Il CHEONG
;
Tae-Joon CHO
;
Eunsang YI
;
Mayfong MAISAI
Author Information
1. Department of Pediatrics, Children Hospital, Vientiane, Lao PDR
- Publication Type:3
- From:Childhood Kidney Diseases
2020;24(2):115-119
- CountryRepublic of Korea
- Language:English
-
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.
