{"orpha":93608,"name":"Autosomal dominant distal renal tubular acidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AD dRTA"],"definition":"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93608/","orphanet_url":"https://www.orpha.net/en/disease/detail/93608","names":{"fr":{"name":"Acidose tubulaire rénale distale autosomique dominante","synonyms":["AD dRTA","ATRd AD"],"definition":"Forme autosomique dominante rare d'acidose tubulaire rénale distale caractérisée par une acidose métabolique hyperchlorémique, associée souvent, mais pas de manière systématique, à une hypokaliémie. La maladie se déclare à l'adolescence ou à l'âge adulte par une polyurie, une polydipsie, une faiblesse musculaire et une fatigue. Par ailleurs, une ostéomalacie ou une ostéopénie, une hypercalciurie, une néphrolithiase et une néphrocalcinose peuvent se développer. Aucun cas d'insuffisance rénale n'a été décrit."},"de":{"name":"Azidose, renale tubuläre, autosomal-dominante Form","synonyms":["AD dRTA"],"definition":"Eine autosomal-dominante Form der distalen renalen tubulären Azidose, die durch eine hyperchlorämische metabolische Azidose gekennzeichnet ist, die häufig, aber nicht immer mit Hypokaliämie einhergeht. Die Erkrankung beginnt in der Jugend oder im Erwachsenenalter und kann sich zunächst durch Polyurie, Polydipsie, Muskelschwäche und Müdigkeit äußern. Auch Osteomalazie oder Osteopenie, Hyperkalziurie, Nephrolithiasis und Nephrokalzinose können auftreten. Nierenversagen ist nicht beschrieben worden."},"es":{"name":"Acidosis tubular renal distal autosómica dominante","synonyms":["AD dRTA"],"definition":"Es una forma poco frecuente de acidosis tubular renal distal autosómica dominante caracterizada por acidosis metabólica hiperclorémica que suele asociarse a hipopotasemia. La enfermedad debuta en la adolescencia o en la edad adulta y las manifestaciones iniciales pueden incluir poliuria, polidipsia, debilidad muscular y cansancio. También puede asociar osteomalacia u osteopenia, hipercalciuria, nefrolitiasis y nefrocalcinosis. No se ha descrito insuficiencia renal."},"it":{"name":"Acidosi tubulare renale distale autosomica dominante","synonyms":["dRTA AD"],"definition":"L'acidosi tubulare renale distale autosomica dominante (dRTA AD) è una forma ereditaria dell'acidosi tubulare renale distale (dRTA; si veda questo termine); è caratterizzata da acidosi metabolica ipercloremica associata, spesso, ma non sempre, all'ipokaliemia."},"nl":{"name":"Autosomaal dominante distale renale tubulaire acidose","synonyms":["AD dRTA"],"definition":"Een zeldzame autosomaal dominante vorm van distale renale tubulaire acidose, gekenmerkt door hyperchloremische metabole acidose die vaak maar niet altijd is geassocieerd met hypokaliëmie. De ziekte vangt aan in de adolescentie of volwassenheid, en initiële manifestaties zijn onder meer polyurie, polydipsie, spierzwakte en vermoeidheid. Osteomalacie of osteopenie, hypercalciurie, nefrolithiasis en nefrocalcinose kunnen ook ontwikkelen. Nierfalen werd niet beschreven."},"pt":{"name":"Acidose tubular renal distal autossómica dominante","synonyms":["AD dRTA"],"definition":"\"Forma rara, autossómica dominante, de acidose tubular renal distal, caracterizada por acidose metabólica hiperclorémica, frequentemente, mas nem sempre, associada à hipocalemia. O início da doença ocorre na adolescência ou na idade adulta e as manifestações iniciais podem incluir poliúria, polidipsia, fraqueza muscular e fadiga. Também poderá ocorrer osteomalácia ou osteopenia, hipercalciúria, nefrolitíase e nefrocalcinose. A insuficiência renal não foi descrita."},"pl":{"name":"Autosomalna dominująca kwasica dystalnych kanalików nerkowych","synonyms":["AD dRTA"],"definition":"Rzadka, autosomalna dominująca postać kwasicy dystalnych kanalików nerkowych, charakteryzująca się hiperchloremiczną kwasicą metaboliczną, często, choć nie zawsze, związaną z hipokaliemią. Początek choroby przypada na okres dojrzewania lub na wiek dorosły, a początkowe objawy mogą obejmować wielomocz, nadmierne pragnienie, osłabienie mięśni i zmęczenie. Może również rozwinąć się osteomalacja lub osteopenia, hiperkalciuria, kamica nerkowa i wapnica nerek. Nie opisywano niewydolności nerek."},"cs":{"name":"Autozomálně dominantní distální renální tubulární acidóza","synonyms":["AD dRTA"]},"uk":{"name":"Аутосомно-домінантний дистальний нирковий канальцевий ацидоз","synonyms":["AD dНTA"],"definition":"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described."},"zh":{"name":"常染色体显性遗传性远端肾小管酸中毒","synonyms":["AD dRTA"],"definition":"远端肾小管性酸中毒（dRTA）的一种罕见遗传性类型，特征是高氯代谢性酸中毒，通常（非总是）伴有低钾血症。"},"tr":{"name":"Otozomal dominant distal renal tübüler asidoz","synonyms":["AD dRTA"]}},"xrefs":[{"source":"OMIM","code":"179800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.44","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008368","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4668","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":18,"name":"Distal renal tubular acidosis","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"SLC4A1","name":"solute carrier family 4 member 1 (Diego blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}