{"orpha":402041,"name":"Autosomal recessive distal renal tubular acidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AR dRTA","Autosomal recessive distal RTA"],"definition":"A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402041/","orphanet_url":"https://www.orpha.net/en/disease/detail/402041","names":{"fr":{"name":"Acidose tubulaire rénale distale autosomique récessive","synonyms":["AR dRTA","ATR distale autosomique récessive","ATRd AR"],"definition":"Forme autosomique récessive rare d'acidose tubulaire rénale proximale (ATRp), caractérisée par un déficit isolé du tubule proximal, entraînant une diminution de la réabsorption du bicarbonate à l'origine d'une fuite urinaire de bicarbonate. Les complications extrarénales sont un léger retard de croissance et une réduction de la densité osseuse. Parmi les autres manifestations figurent une prédisposition aux fractures et un retard de la puberté."},"de":{"name":"Azidose, renale tubuläre, distale, autosomal-rezessive Form","synonyms":["AR dRTA","Distale RTA, autosomal-rezessiv"],"definition":"Eine autosomal-rezessive Form der proximalen renalen tubulären Azidose (pRTA), die durch einen isolierten Defekt im proximalen Tubulus gekennzeichnet ist, der zu einer verminderten Rückresorption von Bikarbonat führt und folglich Bikarbonatverluste im Urin verursacht. Leichte Wachstumsverzögerungen und eine verringerte Knochendichte sind extra-renale Komplikationen. Mehrere Frakturen und eine verzögerte Pubertät sind mögliche Merkmale."},"es":{"name":"Acidosis tubular renal distal autosómica recesiva","synonyms":["AR dRTA","ATR distal autosómica recesiva"],"definition":"Es una forma poco frecuente de acidosis tubular renal proximal (ATRp) autosómica dominante caracterizada por un defecto aislado en el túbulo proximal que conduce a la disminución de la reabsorción de bicarbonato y, en consecuencia, provoca una pérdida de bicarbonato en la orina. Las complicaciones extrarrenales incluyen un ligero retraso del crecimiento y una reducción de la densidad ósea. Otras características posibles son la presencia de varias fracturas y el retraso puberal."},"it":{"name":"Acidosi tubulare renale distale autosomica recessiva","synonyms":["RTA distale autosomica recessiva","dRTA AR"],"definition":"L'acidosi tubulare renale distale autosomica recessiva (dRTA AR) è una forma ereditaria di acidosi tubulare renale distale (dRTA; si veda questo termine) caratterizzata da acidosi metabolica ipercloremica ipokaliemica. La sordità ha un esordio precoce o tardivo, ma può anche mancare o non essere diagnosticata."},"nl":{"name":"Autosomaal recessieve distale renale tubulaire acidose","synonyms":["AR dRTA","Autosomaal recessieve distale RTA"],"definition":"Een zeldzame autosomaal recessieve vorm van proximale renale tubulaire acidose (pRTA), gekenmerkt door een geïsoleerd defect van proximale tubulus dat leidt tot verminderde reabsorptie van bicarbonaat en bijgevolg tot verlies van bicarbonaat via urine. Extrarenale complicaties zijn milde groeiachterstand en verminderde botdensiteit. Meerdere fracturen en uitgestelde puberteit zijn mogelijke kenmerken."},"pt":{"name":"Acidose tubular renal autossómica recessiva","synonyms":["AR dRTA","RTA autossómica recessiva"],"definition":"Forma rara, autossómica dominante, de acidose tubular renal proximal (pRTA), caracterizada por um defeito isolado no túbulo proximal, originando diminuição da reabsorção de bicarbonato e, consequentemente, perda urinária de bicarbonato. Discreto atraso de crescimento e redução da densidade óssea são complicações extra-renais assim como fraturas múltiplas e puberdade tardia."},"pl":{"name":"Autosomalna recesywna kwasica dystalnych kanalików nerkowych","synonyms":["AR dRTA","Autosomalna recesywna dystalna RTA"],"definition":"Rzadka, autosomalna dominująca postać kwasicy proksymalnych kanalików nerkowych (pRTA), charakteryzująca się izolowanym defektem w kanaliku proksymalnym, który prowadzi do zmniejszonego wchłaniania zwrotnego wodorowęglanów i w konsekwencji do utraty wodorowęglanów z moczem. Powikłania pozanerkowe obejmują łagodne opóźnienie wzrostu i zmniejszoną gęstość kości. Mogą dojść do złamań kości i opóźnienia dojrzewania płciowego."},"cs":{"name":"Autozomálně recesivní distální renální tubulární acidóza","synonyms":["AR dRTA","Autozomálně recesivní distální RTA"]},"uk":{"name":"Аутосомно-рецесивний дистальний нирковий тубулярний ацидоз","synonyms":["AR dRTA","Аутосомно-рецесивна дистальна РТА"],"definition":"A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features."},"zh":{"name":"常染色体隐性遗传性远端肾小管酸中毒","synonyms":["常染色体隐性遗传性远端RTA"],"definition":"遗传性远端肾小管性酸中毒（dRTA），特征为低钾高氯代谢性酸中毒。耳聋通常发生在生命的早期或晚期，但可能不存在或从未被诊断出来。"},"tr":{"name":"Otozomal resesif distal renal tübüler asidoz","synonyms":["AR dRTA","Otozomal çekinik distal RTA"]}},"xrefs":[{"source":"OMIM","code":"267300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602722","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018440","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864498","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4666","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93609,"name":"Autosomal recessive distal renal tubular acidosis without deafness","status":"inactive"},{"type":"Moved to","orpha":93611,"name":"Autosomal recessive distal renal tubular acidosis with deafness","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":18,"name":"Distal renal tubular acidosis","classifications":[156,188,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"ATP6V0A4","name":"ATPase H+ transporting V0 subunit a4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23729491[PMID]","hgnc":"866","ensembl":"ENSG00000105929","omim":"605239","loci":["7q34"]},{"symbol":"ATP6V1B1","name":"ATPase H+ transporting V1 subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23729491[PMID]","hgnc":"853","ensembl":"ENSG00000116039","omim":"192132","loci":["2p13.3"]},{"symbol":"FOXI1","name":"forkhead box I1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29242249[PMID]","hgnc":"3815","ensembl":"ENSG00000168269","omim":"601093","loci":["5q35.1"]},{"symbol":"WDR72","name":"WD repeat domain 72","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30028003[PMID]","hgnc":"26790","ensembl":"ENSG00000166415","omim":"613214","loci":["15q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}