A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
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.
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.
참고문헌 (15)
- Rodríguez-Soriano J, "Renal tubular acidosis : the clinical entity", J Am Soc Nephrol, 13, pp.2160~2170 (2002)
- Fry AC, "Inherited renal acidosis", Physiology(Bethesda), 22, pp.20211~ (2007)
- Albright F, "Osteomalacia and late rickets; the various etiologies met in the United States with emphasis on that resulting from a specific form of renal acidosis, the therapeutic indications for each etiological sub-group, and the relationship between osteomalacia and Milkman’s syndrome", Medicine, 25, pp.399~479 (1946)
- Karet FE, "Inherited distal renal tubular acidosis", J Am Soc Nephrol, 13, pp.2178~2184 (2002)
- Batlle D, "Genetic causes and mechanisms of distal renal tubular acidosis", Nephrol Dial Transplant, 27, pp.3691~3704 (2012)
- Karet FE, "Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness", Nat Genet, 21, pp.84~90 (1999)
- Smith AN, "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing", Nat Genet, 26, pp.71~75 (2000)
- Lopez-Garcia SC, "Treatment and long-term outcome in primary distal renal tubular acidosis", Nephrol Dial Transplant, 34, pp.981~991 (2019)
- Karet FE, "Mutations in the chloride-bicarbonate exchanger gene AE1cause autosomal dominant but not autosomal recessive distal renal tubular acidosis", Proc Natl Acad Sci U S A, 95, pp.6337~6342 (1998)
- Tanphaichitr VS, "Novel AE1 mutations in recessive distal renal tubular acidosis : loss-of-function is rescued by glycophorin", J Clin Invest, 102, pp.2173~2179 (1998)
- Khositseth S, "Tropical distal renal tubular acidosis : clinical and epide miological studies in 78 patients", QJM, 105, pp.861~877 (2012)
- 박유진, "Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families", Journal of Korean Medical Science, 33(13), pp.1~6 (2018), 대한의학회
- Ranawaka R, "A child with distal(type 1)renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis", BMC Res Notes, 10, pp.618~ (2017)
- Soares SBM, "Distal renal tubular acidosis : genetic causes and management", World J Pediatr, 15, pp.422~431 (2019)
- Rodriguez-Soriano J, "Natural history of primary distal renal tubular acidosis treated since infancy", J Pediatr, 101, pp.669~676 (1982)