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Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion.
Nefrologia 2013; 33(3):289-96N

Abstract

Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4 and SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1.

Authors+Show Affiliations

Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, DF, México. atr.funatim@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng spa

PubMed ID

23640117

Citation

Escobar, Laura, et al. "Distal Renal Tubular Acidosis: a Hereditary Disease With an Inadequate Urinary H⁺ Excretion." Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, vol. 33, no. 3, 2013, pp. 289-96.
Escobar L, Mejía N, Gil H, et al. Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion. Nefrologia. 2013;33(3):289-96.
Escobar, L., Mejía, N., Gil, H., & Santos, F. (2013). Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion. Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 33(3), pp. 289-96. doi:10.3265/Nefrologia.pre2012.Oct.11592.
Escobar L, et al. Distal Renal Tubular Acidosis: a Hereditary Disease With an Inadequate Urinary H⁺ Excretion. Nefrologia. 2013;33(3):289-96. PubMed PMID: 23640117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion. AU - Escobar,Laura, AU - Mejía,Natalia, AU - Gil,Helena, AU - Santos,Fernando, Y1 - 2013/03/12/ PY - 2012/10/14/accepted PY - 2013/5/4/entrez PY - 2013/5/4/pubmed PY - 2014/6/28/medline SP - 289 EP - 96 JF - Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia JO - Nefrologia VL - 33 IS - 3 N2 - Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4 and SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1. SN - 1989-2284 UR - https://www.unboundmedicine.com/medline/citation/23640117/Distal_renal_tubular_acidosis:_a_hereditary_disease_with_an_inadequate_urinary_H⁺_excretion_ L2 - http://www.revistanefrologia.com/es/linksolver/ft/ivp/0211-6995/33/289 DB - PRIME DP - Unbound Medicine ER -