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Distal Renal Tubular Acidosis (Type I DRTA)

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Renal Tubular Acidosis in Children

Abstract

Distal RTA is the most common type of RTA in children but is infrequently seen. Urine acidification ability is decreased at the α-intercalated cells (distal tubule). Chromosomal mutations are heterogeneous: recessive type a-subunit: ATP6V0A4/7q33-34; type b1 subunit: ATP6V1B1, 2p13: apical α-intercalated cells. They extract H+ from the cytosol to the tubular lumen (H+ATPase). Clinical manifestations: mixed distal, proximal type III RTA (normal anion gap), anorexia, vomiting, hypokalemia, hypercalciuria, hypocitraturia, rickets, nephrocalcinosis, renal lithiasis, sensorineural deafness; early or late-onset.

Chromosomal mutations: HCO3−/Cl− exchanger (kAE1), 17q 1-22 (SCL4A1 gene): basolateral membrane, and, at the erythrocytes: RTA, hemolytic anemia, hereditary spherocytosis.

Mixed RTA, the mutation is at intracellular CA II. Previously classified as type III, nowadays considered a childhood variant of distal RTA. Carbonic anhydrase II (CA II) chromosomal alterations (gene CA2 8q22), autosomal recessive: severe, early, or neonatal, with osteopetrosis, brain calcifications, cognitive changes, mental retardation, bone fractures, deafness, craniofacial dysmorphias.

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Authors and Affiliations

  1. Retired from: Department of Pediatric Nephrology, Hemodialysis Unit, The Children’s Hospital at Albany Medical Center, Albany, NY, USA

    Ricardo Muñoz

  2. Retired from: Pediatric Nephrology Department, Hospital Infantil de México Federico Gómez, Mexico City, Mexico

    Ricardo Muñoz

  3. Retired from: Research Division, Hospital Infantil de Mexico Federico Gomez, Mexico City, Mexico

    Ricardo Muñoz

  4. Retired from: National System of Investigators, Level I, Mexico City, Mexico

    Ricardo Muñoz

  5. Retired from: North American Pediatric Renal Transplantation Collaborative Study (NAPRTCS) Study, Woburn, MA, USA

    Ricardo Muñoz

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  1. Mexico City, Distrito Federal, Mexico

    Ricardo Muñoz

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Muñoz, R. (2022). Distal Renal Tubular Acidosis (Type I DRTA). In: Muñoz, R. (eds) Renal Tubular Acidosis in Children. Springer, Cham. https://doi.org/10.1007/978-3-030-91940-5_9

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  • DOI: https://doi.org/10.1007/978-3-030-91940-5_9

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