{"orpha":69076,"name":"Familial renal glucosuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial renal glycosuria","SGLT2 deficiency"],"definition":"A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69076/","orphanet_url":"https://www.orpha.net/en/disease/detail/69076","names":{"fr":{"name":"Glucosurie rénale familiale","synonyms":["Déficit en SGLT2","Glycosurie rénale familiale"],"definition":"Anomalie génétique rare du transport du glucose caractérisée par une glycosurie chronique isolée en l'absence à la fois de dysfonctionnement tubulaire proximal et d'hyperglycémie. La maladie est bénigne dans la majorité des cas, bien qu'elle puisse parfois se manifester par une polyurie, une énurésie, un retard modéré de croissance ou pubertaire, une hypercalciurie, une aminoacidurie et, dans les cas sévères, par des infections urinaires plus fréquentes, des épisodes de déshydratation ou de cétose au cours de la grossesse ou d'un jeûne prolongé."},"de":{"name":"Renale Glukosurie, familiäre","synonyms":["Renale Glukosurie, hereditäre Form","SGLT2-Defizienz","SGLT2-Mangel"],"definition":"Eine seltene, genetisch bedingte Glukosetransportstörung, die durch das Vorhandensein einer persistierenden, isolierten Glukosurie in Abwesenheit sowohl einer proximalen tubulären Dysfunktion als auch einer Hyperglykämie gekennzeichnet ist. Die Störung ist in der Mehrzahl der Fälle gutartig, obwohl sie sich gelegentlich mit Polyurie, Enuresis, einer leichten Wachstums- und Pubertätsreifeverzögerung, Hyperkalziurie, Aminosäureurie und in schweren Fällen mit erhöhtem Auftreten von Harnwegsinfektionen und episodischer Dehydratation und Ketose während der Schwangerschaft und bei Hunger manifestieren kann."},"es":{"name":"Glucosuria renal familiar","synonyms":["Deficiencia de SGLT2","Glicosuria renal familiar"],"definition":"Es un trastorno genético poco frecuente del transporte de glucosa caracterizado por la presencia de glucosuria aislada persistente en ausencia de disfunción tubular proximal e hiperglucemia. El trastorno es benigno en la mayoría de los casos, aunque en ocasiones, en casos graves, puede manifestarse con poliuria, enuresis, un leve retraso del crecimiento y de la maduración puberal, hipercalciuria, aminoaciduria, una mayor incidencia de infecciones urinarias y deshidratación episódica y cetosis durante el embarazo y el ayuno."},"it":{"name":"Glucosuria renale familiare","synonyms":["Glucosuria renale familiare"],"definition":"Si tratta di una malattia genetica rara del trasporto del glucosio, caratterizzata da glicosuria isolata persistente, in assenza di disfunzione tubulare prossimale e di iperglicemia. Nella maggior parte dei pazienti la malattia ha un decorso benigno, ma può occasionalmente manifestarsi con poliuria, enuresi, lieve ritardo della crescita e dello sviluppo puberale, ipercalciuria, aminoaciduria e, nei casi più gravi, una elevata frequenza di infezioni urinarie, episodi di disidratazione e chetosi durante la gravidanza, e inedia."},"nl":{"name":"Familiale renale glucosurie","synonyms":["Familiale renale glycosurie","SGLT2-deficiëntie"],"definition":"Een zeldzame, genetische stoornis van het glucosetransport die wordt gekarakteriseerd door de aanwezigheid van persisterende geïsoleerde glucosurie in afwezigheid van zowel proximale tubulaire disfunctie als hyperglykemie. In de meerderheid van de gevallen is de stoornis goedaardig, maar occasioneel kan het zich echter manifesteren met polyurie, enuresie, een milde achterstand van de groei en puberale rijping, hypercalciurie, aminoacidurie en, in ernstige gevallen, verhoogde incidentie van urineweginfecties en episodische dehydratie en ketose tijdens zwangerschap en uithongering."},"pt":{"name":"Glicosúria renal","synonyms":["Glicosúria renal familiar"]},"pl":{"name":"Rodzinna glikozuria nerkowa","synonyms":["Niedobór SGLT2"]},"cs":{"name":"Renální glykosurie","synonyms":["Familiární renální glykosurie","Deficit SGLT2"]},"uk":{"name":"Сімейна ниркова глюкозурія","synonyms":["Сімейна ниркова глікозурія","Дефіцит SGLT2"],"definition":"A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation."},"zh":{"name":"家族性肾性葡糖尿症","synonyms":["家族性肾性糖尿"]},"tr":{"name":"Ailesel renal glukozüri","synonyms":["SGLT2 eksikliği","Ailesel böbrek glikozüri"]}},"xrefs":[{"source":"OMIM","code":"233100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C61.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"381783069"},{"source":"MONDO","code":"0009297","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3245525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073689","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":79178,"name":"Glucose transport disorder","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]}],"children":[],"genes":[{"symbol":"SLC5A2","name":"solute carrier family 5 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14614622[PMID]_21165652[PMID]_24255686[PMID]","hgnc":"11037","ensembl":"ENSG00000140675","omim":"182381","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-15","source":"29110414[PMID]_30942416[PMID]","terms":[{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008855","label":"Moderate postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040214","label":"Abnormal circulating insulin concentration","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004924","label":"Abnormal oral glucose tolerance","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040217","label":"Elevated hemoglobin A1c","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Excluded (0%)","criteria":null}]}}