{"orpha":1670,"name":"Chronic diarrhea with villous atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1670/","orphanet_url":"https://www.orpha.net/en/disease/detail/1670","names":{"fr":{"name":"Syndrome de diarrhée chronique-atrophie villositaire","definition":"Le syndrome de diarrhée chronique-atrophie villositaire est une maladie gastroentérologique génétique rare caractérisée par l'apparition précoce d'une diarrhée chronique, de vomissements, d'une anorexie, d'une acidose lactique, d'une insuffisance rénale et d'une atteinte hépatique (légère augmentation des enzymes hépatiques, stéatose, hépatomégalie). Une atrophie villositaire partielle (avec infiltration éosinophilique) est observée à la biopsie intestinale. Bien que la diarrhée puisse se résoudre, le développement de signes neurologiques (ataxie cérébelleuse, surdité neurosensorielle, convulsions), d'une rétinite pigmentaire et d'une faiblesse musculaire peut compliquer l'évolution de la maladie et être fatal. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1994."},"de":{"name":"Diarrhoe, chronische mit Zottenatrophie","definition":"Die chronische Diarrhoe mit Zottenatrophie ist eine seltene, genetisch bedingte gastroenterologische Erkrankung, die durch das frühe Auftreten von chronischem Durchfall, Erbrechen, Anorexie, Laktatazidose, Niereninsuffizienz und Leberbeteiligung (leichte Erhöhung der Leberenzyme, Steatose, Hepatomegalie) gekennzeichnet ist. Bei der Darmbiopsie wird eine partielle Zottenatrophie (mit eosinophiler Infiltration) beobachtet. Obwohl die Diarrhöe abklingen kann, kann die Entwicklung von neurologischen Symptomen (zerebelläre Ataxie, sensorineurale Taubheit, Krampfanfälle), Retinitis pigmentosa und Muskelschwäche den Krankheitsverlauf komplizieren und zum Tod führen. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Diarrea crónica con atrofia villositaria","definition":"La diarrea crónica con atrofia villositaria es una enfermedad gastroenterológica genética rara caracterizada por la aparición temprana de diarrea crónica, vómitos, anorexia, acidosis láctica, insuficiencia renal y afectación hepática (leve elevación de las enzimas hepáticas, esteatosis, hepatomegalia). Se observa atrofia vellosa parcial (con infiltración eosinofílica) en la biopsia intestinal. Aunque la diarrea puede resolverse, el desarrollo de síntomas neurológicos (ataxia cerebelosa, sordera neurosensorial, convulsiones), retinosis pigmentaria y debilidad muscular pueden complicar el curso de la enfermedad y conducir a la muerte. No ha habido más descripciones en la literatura desde 1994."},"it":{"name":"Diarrea cronica con atrofia dei villi","definition":"La diarrea cronica con atrofia dei villi è una malattia gastrointestinale genetica rara, ad esordio precoce, caratterizzata da diarrea cronica, vomito, anoressia, acidosi lattica, insufficienza renale e interessamento epatico (lieve aumento degli enzimi, steatosi, epatomegalia). La biopsia intestinale evidenzia un'atrofia parziale dei villi (con infiltrazione eosinofila). La diarrea può risolversi, ma i segni neurologici (atassia cerebellare, sordità neurosensoriale, crisi epilettiche), la retinite pigmentosa e la debolezza muscolare possono complicare il decorso della malattia ed esitare nel decesso. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Chronische diarree met villusatrofie","definition":"Chronische diarree met villusatrofie is een zeldzame, genetische gastro-enterologische ziekte die gekarakteriseerd wordt door een vroege aanvang van chronische diarree, braken, anorexie, lactaatacidose, nierinsufficiëntie en betrokkenheid van de lever (milde verhoging van leverenzymen, steatose, hepatomegalie). Partiële villusatrofie (met eosinofiele infiltratie) wordt waargenomen bij intestinale biopsie. Hoewel de diarree kan verdwijnen, kan de ontwikkeling van neurologische symptomen (cerebellaire ataxie, sensorineurale doofheid, insulten), retinitis pigmentosa en spierzwakte het verloop van de ziekte compliceren en leiden tot de dood. Sinds 1994 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Diarreia crónica com atrofia das vilosidades"},"pl":{"name":"Przewlekła biegunka z atrofią kosmków"},"cs":{"name":"Chronická diarea s vilózní atrofií"},"uk":{"name":"Хронічна діарея з атрофією ворсинок","definition":"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994."},"zh":{"name":"慢性腹泻伴绒毛萎缩"},"tr":{"name":"Villöz atrofi ile kronik diyare"}},"xrefs":[{"source":"OMIM","code":"520100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1796265387"},{"source":"MONDO","code":"0010786","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564019","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8283377[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8283377[PMID]"}],"phenotypes":null}