{"orpha":314822,"name":"Primary renal tubular acidosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314822/","orphanet_url":"https://www.orpha.net/en/disease/detail/314822","names":{"fr":{"name":"Acidose tubulaire rénale primitive","definition":"Groupe de néphropathies tubulaires rares caractérisées par des défauts primaires de la réabsorption du bicarbonate à partir de l'urine (acidose tubulaire rénale proximale) et/ou défaut d'excrétion d'hydrogène dans le tubule distal (acidose tubulaire rénale distale), entraînant une acidose métabolique avec hyperchlorémie à trou anionique normal. Le débit de filtration glomérulaire est relativement normal."},"de":{"name":"Azidose, renale tubuläre, primäre","definition":"Eine Gruppe seltener tubulärer Nierenerkrankungen, die durch primäre Defekte in der Bikarbonatrückresorption aus dem Urin (proximale renale tubuläre Azidose) und/oder der Wasserstoffausscheidung in das Lumen (distale renale tubuläre Azidose) gekennzeichnet sind, was zu einer metabolischen Azidose mit Hyperchlorämie und einer normalen Plasmaanionenlücke führt. Die glomeruläre Filtrationsrate ist relativ normal."},"es":{"name":"Acidosis tubular renal primaria","definition":"Es un grupo de enfermedades tubulares renales poco frecuentes caracterizadas por defectos primarios de reabsorción del bicarbonato en orina (acidosis tubular renal proximal) y/o de la excreción de hidrogeniones en la luz tubular (acidosis tubular renal distal), resultando en acidosis metabólica con hipercloremia y una brecha aniónica plasmática normal. La tasa de filtración glomerular es relativamente normal."},"it":{"name":"Acidosi primitiva dei tubuli renali","definition":"Si tratta di un gruppo di malattie rare dei tubuli renali, caratterizzate da difetti primari del riassorbimento del bicarbonato dall'urina (acidosi dei tubuli renali prossimali) e/o dell'escrezione di idrogeno nel lume (acidosi dei tubuli renali distali), che esitano nell'acidosi metabolica con ipercloremia e un gap anionico plasmatico normale. La velocità di filtrazione glomerulare è relativamente normale."},"nl":{"name":"Primaire renale tubulaire acidose","definition":"Een groep van zeldzame aandoeningen van niertubulus, gekenmerkt door primaire defecten van reabsorptie van bicarbonaat uit urine (proximale renale tubulaire acidose) en/of excretie van waterstof in het lumen (distale renale tubulaire acidose), wat resulteert in metabole acidose met hyperchloremie en een normale anion gap in plasma. De glomerulaire filtratiesnelheid is relatief normaal."},"pt":{"name":"Acidose tubular renal primária"},"pl":{"name":"Pierwotna kwasica kanalikowa nerek"},"cs":{"name":"Primární renální tubulární acidóza"},"uk":{"name":"Первинний нирковий тубулярний ацидоз","definition":"A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal."},"zh":{"name":"原发性肾小管性酸中毒"},"tr":{"name":"Primer renal tübüler asidoz"}},"xrefs":[{"source":"MONDO","code":"17828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680966","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7552","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2675,"name":"OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":18,"name":"Distal renal tubular acidosis","type":"Disease"},{"orpha":3240,"name":"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","type":"Disease"},{"orpha":2785,"name":"Osteopetrosis with renal tubular acidosis","type":"Disease"},{"orpha":47159,"name":"Proximal renal tubular acidosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}