Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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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)
  • Received : 2020.06.30
  • Accepted : 2020.09.08
  • Published : 2020.10.31
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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.

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References

  1. Rodriguez-Soriano J. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol 2002;13:2160-70. https://doi.org/10.1097/01.ASN.0000023430.92674.E5
  2. Fry AC, Karet FE. Inherited renal acidosis. Physiology (Bethesda) 2007;22:20211.
  3. Albright F, Burnett CH, Parson W, Reifenstein EC Jr, Roos A. 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 1946;25:399-479. https://doi.org/10.1097/00005792-194612000-00002
  4. Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002;13:2178-84. https://doi.org/10.1097/01.ASN.0000023433.08833.88
  5. Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant 2012;27:3691-704. https://doi.org/10.1093/ndt/gfs442
  6. Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999;21:84-90. https://doi.org/10.1038/5022
  7. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000;26:71-5. https://doi.org/10.1038/79208
  8. Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, et al. Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant 2019;34:981-91. https://doi.org/10.1093/ndt/gfy409
  9. Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A 1998;95:6337-42. https://doi.org/10.1073/pnas.95.11.6337
  10. Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, et al. Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin. J Clin Invest 1998;102:2173-9. https://doi.org/10.1172/JCI4836
  11. Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, et al. Tropical distal renal tubular acidosis: clinical and epide miological studies in 78 patients. QJM 2012;105:861-77. https://doi.org/10.1093/qjmed/hcs139
  12. Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y. Primary autosomal recessive distal renal tubular acidosis caused by a common homozygous SLC4A1 mutation in two Lao families. J Korean Med Sci 2018;33:e95. https://doi.org/10.3346/jkms.2018.33.e95
  13. Ranawaka R, Dayasiri K, Gamage M. A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis. BMC Res Notes 2017;10:618. https://doi.org/10.1186/s13104-017-2949-2
  14. Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simoes E Silva AC. Distal renal tubular acidosis: genetic causes and management. World J Pediatr 2019;15:422-31. https://doi.org/10.1007/s12519-019-00260-4
  15. Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R. Natural history of primary distal renal tubular acidosis treated since infancy. J Pediatr 1982;101:669-76. https://doi.org/10.1016/S0022-3476(82)80288-6