{"orpha":94086,"name":"Blue diaper syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Drummond syndrome","Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"],"definition":"A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94086/","orphanet_url":"https://www.orpha.net/en/disease/detail/94086","names":{"fr":{"name":"Maladie des langes bleus","synonyms":["Syndrome d'hypercalcémie familiale-néphrocalcinose-indicanurie","Syndrome de Drummond"],"definition":"Erreur innée du métabolisme rare caractérisée par une diarrhée d'apparition précoce, une fièvre, une hypoglycémie récurrente, une hypercalcémie avec néphrocalcinose, une acidose métabolique et une indicanurie due à la dégradation bactérienne du tryptophane mal absorbé et une production excessive d'indole qui, lorsqu'il est oxydé en bleu indigo, provoque une coloration bleuâtre d'urine perceptible sur les couches du nourrisson affecté."},"de":{"name":"Blue-Diaper-Syndrom","synonyms":["Drummond-Syndrom","Hyperkalzämie, familiäre - Nephrokalzinose - Indikanurie"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch früh einsetzenden Durchfall, Fieber, rezidivierende Hypoglykämie, Hyperkalzämie mit Nephrokalzinose, metabolische Azidose und Indikanurie gekennzeichnet ist, die auf den bakteriellen Abbau von schlecht resorbiertem Tryptophan mit übermäßiger Indolproduktion zurückzuführen ist, die bei Oxidation zu Indigoblau eine bläuliche Verfärbung der Urinflecken in der Windel des betroffenen Säuglings verursacht."},"es":{"name":"Síndrome de pañal azul","synonyms":["Síndrome de Drummond"],"definition":"Es un error congénito y poco frecuente del metabolismo caracterizado por diarrea de aparición precoz, fiebre, hipoglucemia recurrente, hipercalcemia con nefrocalcinosis, acidosis metabólica e indicanuria debido a la degradación bacteriana del triptófano mal absorbido con producción excesiva de indol que, tras la oxidación a azul índigo, provoca una coloración azulada de las manchas de orina en el pañal del bebé afectado."},"it":{"name":"Sindrome del pannolino blu"},"nl":{"name":"Blauwe luier-syndroom","synonyms":["Blue diaper-syndroom","Familiale hypercalciëmie - nefrocalcinose - indicanurie-syndroom","Syndroom van Drummond"],"definition":"Een zeldzame aangeboren stofwisselingsziekte, gekenmerkt door vroeg optredende diarree, koorts, recidiverende hypoglycemie, hypercalciëmie met nefrocalcinose, metabole acidose, en indicanurie door bacteriële degradatie van slecht opgenomen tryptofaan met excessieve productie van indool, die na oxidatie tot indigoblauw leidt tot blauwe verkleuring van urinevlekken in de luier van een getroffen zuigeling."},"pt":{"name":"Síndrome da fralda azul","synonyms":["Síndrome \"blue diaper\"","Síndrome Drummond","Síndrome hipercalcemia-nefrocalcinose-indicanúria familiar"],"definition":"Erro inato raro do metabolismo caracterizado por diarreia de início precoce, febre, hipoglicemia recorrente, hipercalcemia com nefrocalcinose, acidose metabólica e indicanúria devido à degradação bacteriana do triptofano malabsorvido com produção excessiva de indol que, após oxidação em azul índigo, causa descoloração azulada de manchas de urina na fralda da criança afetada."},"pl":{"name":"Zespół niebieskich pieluszek","synonyms":["Rodzinna hiperkalcemia - kamica nerkowa - indykanuria","Zespół Drummonda"],"definition":"Rzadki wrodzony błąd metabolizmu charakteryzujący się wczesną biegunką, gorączką, nawracającą hipoglikemią, hiperkalcemią z wapnicą nerek, kwasicą metaboliczną i indyknurią wynikającą z bakteryjnego rozkładu nieprawidłowo wchłanianego tryptofanu z nadmierną produkcją indolu, który po utlenieniu do błękitu indygo daje niebieskawe zabarwienie skóry oraz charakterystyczne plamy moczu na pieluszce chorego niemowlęcia."},"cs":{"name":"Syndrom modré pleny","synonyms":["Syndrom zahrnující familiární hyperkalcemii, nefrokalcinózu a indikanurii","Malabsorpce tryptofanu","Drummondův syndrom"]},"uk":{"name":"Синдром блакитних пелюшок","synonyms":["Синдром Драммонда","Сімейний синдром гіперкальціємії-нефрокальцинозу-індиканурії"],"definition":"A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant."},"zh":{"name":"蓝色尿布综合征","synonyms":["家族性高钙血症-肾钙质沉着症-尿蓝母尿综合征"],"definition":"蓝尿布综合征是一种以高钙血症伴肾钙质沉着和紫癜为特征的遗传性代谢紊乱。"},"tr":{"name":"Mavi bebek bezi sendromu","synonyms":["Drummond sendromu","Ailesel hiperkalsemi-nefrokalsinoz-indikanüri sendromu"]}},"xrefs":[{"source":"OMIM","code":"211000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"292681007"},{"source":"MONDO","code":"0008877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536239","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268478","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5939","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"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":"2021-10-20","source":"29610180[PMID]_14246093[PMID]","terms":[{"hpo":"HP:0040317","label":"Blue urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031883","label":"Increased proinsulin:insulin ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Occasional (29-5%)","criteria":null}]}}