Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a normal anion gap in plasma, in the presence of high ur...

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Autores principales:	Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Acidosis tubular renal distal Correlación genotipo-fenotipo Tratamiento Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/99e2cf3a1a794fe3bb4192593d0ec367
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spelling	oai:doaj.org-article:99e2cf3a1a794fe3bb4192593d0ec3672021-11-14T04:31:52ZHereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives2013-251410.1016/j.nefroe.2021.09.004https://doaj.org/article/99e2cf3a1a794fe3bb4192593d0ec3672021-07-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2013251421000900https://doaj.org/toc/2013-2514Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a normal anion gap in plasma, in the presence of high urinary pH and low urinary excretion of ammonium.To date, 5 genes whose mutations give rise to primary DRTA have been described. Alterations in the ATP6V1B1 and ATP6V0A4 genes are inherited recessively and are associated with forms of early onset and, in many cases, with neurosensorial deafness. Pathogenic variants in the SLC4A1 gene are habitually inherited dominantly and give rise to milder symptoms, with a later diagnosis and milder electrolytic alterations. Nonetheless, evolution to nephrocalcinosis and lithiasis, and the development of chronic kidney disease in the medium to long term has been described in a similar manner in all 3 groups. Lastly, recessive forms of DTRA associated to mutations in the FOXI1 and WDR72 genes have also been described.The clinical management of DTRA is based on bicarbonate or citrate salts, which do not succeed in correcting all cases of the metabolic alterations described and, thus, the consequences associated with them. Recently, a new treatment based on slow-release bicarbonate and citrate salts has received the designation of orphan drug in Europe for the treatment of DTRA. Resumen: La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica hiperclorémica persistente, con anión gap normal en plasma, en presencia de un pH urinario elevado y baja excreción urinaria de amonio.Se han descrito hasta el momento 5 genes cuyas mutaciones dan lugar a ATRD primaria. Las alteraciones de los genes ATP6V1B1 y ATP6V0A4 se heredan de forma recesiva y están asociadas a formas de inicio más precoces y con sordera neurosensorial en muchos casos. Las variantes patogénicas en el gen SLC4A1 se heredan habitualmente de forma dominante y dan lugar a cuadros más leves, con un diagnóstico más tardío y alteraciones electrolíticas menores. Sin embargo, la evolución a nefrocalcinosis y litiasis, y el desarrollo de enfermedad renal crónica a medio-largo plazo se ha descrito de forma similar en estos 3 grupos. Por último, se han descrito también formas recesivas de ATRD asociadas a mutaciones en los genes FOXI1 y WDR72.El manejo clínico de la ATRD se basa en sales de bicarbonato o citrato, que no logran corregir en todos los casos las alteraciones metabólicas descritas y, por lo tanto, las consecuencias asociadas a ellas. Recientemente, un nuevo tratamiento basado en sales de bicarbonato y citrato de liberación prolongada ha recibido la denominación de medicamento huérfano en Europa para el tratamiento de la ATRD.Sara Gómez-CondeAlejandro García-CastañoMireia AguirreMaría HerreroLeire GondraLuis CastañoLeire MadariagaElsevierarticleAcidosis tubular renal distalCorrelación genotipo-fenotipoTratamientoDiseases of the genitourinary system. UrologyRC870-923ENNefrología (English Edition), Vol 41, Iss 4, Pp 383-390 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Acidosis tubular renal distal Correlación genotipo-fenotipo Tratamiento Diseases of the genitourinary system. Urology RC870-923
spellingShingle	Acidosis tubular renal distal Correlación genotipo-fenotipo Tratamiento Diseases of the genitourinary system. Urology RC870-923 Sara Gómez-Conde Alejandro García-Castaño Mireia Aguirre María Herrero Leire Gondra Luis Castaño Leire Madariaga Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
description	Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a normal anion gap in plasma, in the presence of high urinary pH and low urinary excretion of ammonium.To date, 5 genes whose mutations give rise to primary DRTA have been described. Alterations in the ATP6V1B1 and ATP6V0A4 genes are inherited recessively and are associated with forms of early onset and, in many cases, with neurosensorial deafness. Pathogenic variants in the SLC4A1 gene are habitually inherited dominantly and give rise to milder symptoms, with a later diagnosis and milder electrolytic alterations. Nonetheless, evolution to nephrocalcinosis and lithiasis, and the development of chronic kidney disease in the medium to long term has been described in a similar manner in all 3 groups. Lastly, recessive forms of DTRA associated to mutations in the FOXI1 and WDR72 genes have also been described.The clinical management of DTRA is based on bicarbonate or citrate salts, which do not succeed in correcting all cases of the metabolic alterations described and, thus, the consequences associated with them. Recently, a new treatment based on slow-release bicarbonate and citrate salts has received the designation of orphan drug in Europe for the treatment of DTRA. Resumen: La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica hiperclorémica persistente, con anión gap normal en plasma, en presencia de un pH urinario elevado y baja excreción urinaria de amonio.Se han descrito hasta el momento 5 genes cuyas mutaciones dan lugar a ATRD primaria. Las alteraciones de los genes ATP6V1B1 y ATP6V0A4 se heredan de forma recesiva y están asociadas a formas de inicio más precoces y con sordera neurosensorial en muchos casos. Las variantes patogénicas en el gen SLC4A1 se heredan habitualmente de forma dominante y dan lugar a cuadros más leves, con un diagnóstico más tardío y alteraciones electrolíticas menores. Sin embargo, la evolución a nefrocalcinosis y litiasis, y el desarrollo de enfermedad renal crónica a medio-largo plazo se ha descrito de forma similar en estos 3 grupos. Por último, se han descrito también formas recesivas de ATRD asociadas a mutaciones en los genes FOXI1 y WDR72.El manejo clínico de la ATRD se basa en sales de bicarbonato o citrato, que no logran corregir en todos los casos las alteraciones metabólicas descritas y, por lo tanto, las consecuencias asociadas a ellas. Recientemente, un nuevo tratamiento basado en sales de bicarbonato y citrato de liberación prolongada ha recibido la denominación de medicamento huérfano en Europa para el tratamiento de la ATRD.
format	article
author	Sara Gómez-Conde Alejandro García-Castaño Mireia Aguirre María Herrero Leire Gondra Luis Castaño Leire Madariaga
author_facet	Sara Gómez-Conde Alejandro García-Castaño Mireia Aguirre María Herrero Leire Gondra Luis Castaño Leire Madariaga
author_sort	Sara Gómez-Conde
title	Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
title_short	Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
title_full	Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
title_fullStr	Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
title_full_unstemmed	Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
title_sort	hereditary distal renal tubular acidosis: genotypic correlation, evolution to long term, and new therapeutic perspectives
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/99e2cf3a1a794fe3bb4192593d0ec367
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Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

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