{"orpha":97367,"name":"Renal tubular dysgenesis due to twin-twin transfusion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97367/","orphanet_url":"https://www.orpha.net/en/disease/detail/97367","names":{"fr":{"name":"Dysgénésie tubulaire rénale associée au syndrome de transfusion foeto-foetale","synonyms":["Dysgénésie tubulaire rénale associée au syndrome du transfuseur transfusé"],"definition":"Forme acquise rare de dysgénésie tubulaire rénale qui se développe chez les foetus donneurs en raison d'un shunt du flux sanguin vers le rein du receveur, caractérisée par une absence ou un sous-développement de tubules proximaux rénaux, un oligohydramnios persistant à l'origine de la séquence de Potter (dysmorphie faciale à type de grandes oreilles aplaties d'implantation basse, d'hypoplasie pulmonaire, d'arthrogrypose et de malposition des membres)."},"de":{"name":"Renale tubuläre Dysgenesie durch Zwilling-Zwilling-Transfusion","synonyms":["Dysgenesie der Nierentubuli durch Zwillings-Transfusions-Syndrom"],"definition":"Eine seltene erworbene Form der renalen tubulären Dysgenesie, die sich bei Spenderfeten durch den Shunt des Blutflusses zur Niere des Empfängers entwickelt und durch fehlende oder schlecht entwickelte proximale Tubuli, anhaltenden Oligohydramnion und folglich die Potter-Sequenz (Gesichtsdysmorphien mit großen und flachen, tief angesetzten Ohren, Lungenhypoplasie, Arthrogrypose und Gliedmaßenstellungsfehler) gekennzeichnet ist."},"es":{"name":"Disgenesia tubular renal por transfusión gemelo-gemelo","definition":"Es una forma adquirida y poco frecuente de disgenesia tubular renal que se desarrolla en fetos donantes debido a la derivación del flujo sanguíneo al riñón del receptor y que se caracteriza por la ausencia o el escaso desarrollo de los túbulos proximales, oligohidramnios persistente y, en consecuencia, secuencia de Potter (dismorfia facial con orejas grandes y aplanadas de implantación baja, hipoplasia pulmonar, artrogriposis y posición defectuosa de las extremidades)."},"it":{"name":"Disgenesia dei tubuli renali da trasfusione gemello-gemello","definition":"Si tratta di una forma rara acquisita di disgenesia dei tubuli renali, che si sviluppa nei feti donatori a causa dello shunt del flusso sanguigno verso il rene del ricevente. La malattia è caratterizzata da agenesia o iposviluppo dei tubuli prossimali, oligoidramnios persistente e, di conseguenza, dalla sequenza di Potter (dismorfismi facciali con orecchie grandi e piatte a basso impianto, ipoplasia dei polmoni, artrogriposi e difetti del posizionamento degli arti)."},"nl":{"name":"Renale tubulaire dysgenesie als gevolg van tweeling-tweelingtransfusie","definition":"Een zeldzame verworven vorm van renale tubulaire dysgenesie die ontwikkelt bij donorfoetussen als gevolg van shunting van bloedstroom naar de nier van de ontvanger, en die gekenmerkt wordt door afwezige of weinig ontwikkelde proximale tubuli, persisterende oligohydramnion en bijgevolg Potter-sequentie (faciale dysmorfie met grote, platte en laagstaande oren, hypoplasie van long, artrogrypose, en defecten van de positionering van ledematen)."},"pt":{"name":"Disgenesia tubular renal por transfusão gémeo-gémeo","definition":"Forma adquirida rara de disgenesia tubular renal que ocorre em fetos de doadores devido ao desvio do fluxo sanguíneo para o rim do recetor e caracterizada por túbulos proximais ausentes ou mal desenvolvidos, oligoidrâmnio persistente e, consequentemente, a sequência de Potter (dismorfismo facial com orelhas amplas e de implantação baixa, hipoplasia pulmonar, artrogripose e defeitos de posicionamento dos membros)."},"pl":{"name":"Dysgenezja kanalików nerkowych z powodu zespołu przetoczenia krwi między płodami"},"cs":{"name":"Renální tubulární dysgeneze způsobená syndromem feto-fetální transfuze"},"uk":{"name":"Дисгенезія ниркових канальців внаслідок переливання крові між близнюками","definition":"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)."},"zh":{"name":"双胞胎输血引起肾小管发育不全"},"tr":{"name":"İkizler arası transfüzyonuna bağlı renal tübüler disgenezi"}},"xrefs":[{"source":"ICD-10","code":"Q63.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"122234138"},{"source":"MONDO","code":"0019984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5438872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3033,"name":"Renal tubular dysgenesis","classifications":[147,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}