{"orpha":73014,"name":"Intractable diarrhea of infancy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["IDI"],"definition":"Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73014/","orphanet_url":"https://www.orpha.net/en/disease/detail/73014","names":{"fr":{"name":"Diarrhée intraitable de l'enfant","definition":"La diarrhée intraitable de l'enfant (DIE) est un syndrome hétérogène qui inclut plusieurs maladies d'étiologies différentes. La classification provisoire des DIE, fondée sur l'atrophie villositaire et sur des critères immunohistologiques, distingue deux groupes clairement différents de DIE : 1) DIE auto-immune : caractérisée par une infiltration de cellules mononucléaires dans la lamina propria et considérée comme liée à l'activation des lymphocytes T. 2) Le second type histologique de DIE inclut la diarrhée intraitable de l'enfant sévère avec début précoce, caractérisée histologiquement par une atrophie villositaire avec peu ou sans infiltration de mononucléaires dans la lamina propria mais avec des anomalies épithéliales histologiques."},"de":{"name":"Intraktable Diarrhoe im Kindesalter","synonyms":["IDI"],"definition":"Die nicht beherrschbare Diarrhoe des Kleinkindes (IDI) ist ein heterogenes Syndrom, das mehrere Krankheiten mit unterschiedlichen Ursachen einschließt. Eine vorläufige Klassifizierung der IDI nimmt Bezug auf die Zottenatrophie und auf immunhistologische Kriterien und unterscheidet damit zwei eindeutig verschiedene Gruppen der IDI: (i) Die immunvermittelte IDI: Sie ist charakterisiert durch Infiltration der Lamina propria mit mononukleären Zellen. Es wird angenommen, daß eine Beziehung zur T-Zell-Aktivierung besteht."},"es":{"name":"Diarrea intratable infantil","definition":"La diarrea intratable de la infancia (IDI) es un síndrome heterogéneo que incluye varias enfermedades con etiologías diferentes. La clasificación provisional de la IDI, tomando como criterio la atrofia de las vellosidades y las observaciones inmunohistológicas, distingue dos grupos de IDI claramente diferenciadas: 1) De naturaleza inmune: caracterizadas por una infiltración de células mononucleares de la lámina propia, consideradas como resultado de una activación de las células T. 2) El segundo patrón histológico incluye la diarrea intratable severa de aparición temprana, caracterizada histológicamente por atrofia de las vellosidades con una infiltración de células mononucleares desde la lámina propia muy baja o inexistente pero incluyendo anomalías histológicas específicas que afectan al epitelio."},"it":{"name":"Diarrea intrattabile dell'infanzia","synonyms":["IDI"]},"nl":{"name":"Refractaire diarree bij zuigeling","synonyms":["IDI","Therapieresistente diarree bij zuigeling"],"definition":"Refractaire diarree in de zuigelingentijd (IDI) is een heterogeen syndroom dat meerdere ziekten met verschillende etiologie bevat. Een voorlopige classificatie van IDI, naargelang villusatrofie en gebaseerd op immunohistologische criteria, onderscheidt twee duidelijk verschillende groepen van IDI: 1) immuungemedieerd, gekenmerkt door infiltratie van lamina propria met mononucleaire cellen en vermoedelijk gerelateerd aan activatie van T-cellen, en 2) een tweede histologisch patroon met vroeg optredende ernstige refractaire diarree, histologisch gekenmerkt door villusatrofie met weinig of geen infiltratie van lamina propria met mononucleaire cellen, maar met specifieke histologische afwijkingen van epitheel."},"pt":{"name":"Diarreia intratável da infância","synonyms":["DII"]},"pl":{"name":"Trudna do opanowania biegunka dziecięca","synonyms":["IDI"]},"cs":{"name":"Persistentní průjem kojenců","synonyms":["IDI"]},"uk":{"name":"Невиліковна діарея у немовлят","synonyms":["IDI"],"definition":"Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium."},"zh":{"name":"婴儿顽固性腹泻","synonyms":["IDI"]},"tr":{"name":"Süt çocuğunun inatçı ishali","synonyms":["IDI"]}},"xrefs":[{"source":"MONDO","code":"19126","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":1670,"name":"Chronic diarrhea with villous atrophy","type":"Disease"},{"orpha":329242,"name":"Congenital chronic diarrhea with protein-losing enteropathy","type":"Disease"},{"orpha":714487,"name":"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome","type":"Disease"},{"orpha":103908,"name":"Congenital sodium diarrhea","type":"Disease"},{"orpha":92050,"name":"Congenital tufting enteropathy","type":"Disease"},{"orpha":137622,"name":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","type":"Malformation syndrome"},{"orpha":2290,"name":"Microvillus inclusion disease","type":"Disease"},{"orpha":714490,"name":"PERCC1-related congenital intractable malabsorptive diarrhea","type":"Disease"},{"orpha":522037,"name":"Primary autoimmune enteropathy","type":"Disease"},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","type":"Clinical group"},{"orpha":563708,"name":"Syndromic congenital sodium diarrhea","type":"Disease"},{"orpha":84064,"name":"Trichohepatoenteric syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[],"phenotypes":null}