A rare cause of rectovaginal fistula in early infancy: It is in the genes!

Acquired Rectovaginal Fistula (RVF) is rare in infants. Interleukin10/ Interleukin 10 receptor deficiencies are monogenic disorders presenting as aggressive forms of infantile onset inflammatory bowel disease with perianal abscess and fistula. Genetic studies assist in confirming the diagnosis. We p...

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Autores principales:	Aravind Swaminathan, Malathi Sathiyasekaran, Swathi Padankatti, Rajiv B Padankatti, S Arulprakash, Revathi Raj
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Medknow Publications 2021
Materias:	rectovaginal fistula infantile onset ibd monogenic ibd il10/il10r hematopoietic stem cell transplant Pediatrics RJ1-570 Surgery RD1-811
Acceso en línea:	https://doaj.org/article/6519761bac9f4d569c8e8410e601faf7
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spelling	oai:doaj.org-article:6519761bac9f4d569c8e8410e601faf72021-11-19T10:42:06ZA rare cause of rectovaginal fistula in early infancy: It is in the genes!0971-92611998-389110.4103/jiaps.JIAPS_217_20https://doaj.org/article/6519761bac9f4d569c8e8410e601faf72021-01-01T00:00:00Zhttp://www.jiaps.com/article.asp?issn=0971-9261;year=2021;volume=26;issue=6;spage=442;epage=444;aulast=Swaminathanhttps://doaj.org/toc/0971-9261https://doaj.org/toc/1998-3891Acquired Rectovaginal Fistula (RVF) is rare in infants. Interleukin10/ Interleukin 10 receptor deficiencies are monogenic disorders presenting as aggressive forms of infantile onset inflammatory bowel disease with perianal abscess and fistula. Genetic studies assist in confirming the diagnosis. We present a two month old infant with rectovaginal fistula, severe colitis, failure to thrive and recurrent infections in whom colonoscopy revealed irregular colonic ulcers, and genetic studies confirmed an IL10RB mutation. Hematopoietic Stem cell transplantation is the definitive therapy for this disorder which the child underwent. We report this infant with an acquired RVF with extraintestinal features due to IL10RB mutation to highlight the importance of thinking beyond the local anatomy and looking into the genetic domain.Aravind SwaminathanMalathi SathiyasekaranSwathi PadankattiRajiv B PadankattiS ArulprakashRevathi RajWolters Kluwer Medknow Publicationsarticlerectovaginal fistulainfantile onset ibdmonogenic ibdil10/il10rhematopoietic stem cell transplantPediatricsRJ1-570SurgeryRD1-811ENJournal of Indian Association of Pediatric Surgeons, Vol 26, Iss 6, Pp 442-444 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	rectovaginal fistula infantile onset ibd monogenic ibd il10/il10r hematopoietic stem cell transplant Pediatrics RJ1-570 Surgery RD1-811
spellingShingle	rectovaginal fistula infantile onset ibd monogenic ibd il10/il10r hematopoietic stem cell transplant Pediatrics RJ1-570 Surgery RD1-811 Aravind Swaminathan Malathi Sathiyasekaran Swathi Padankatti Rajiv B Padankatti S Arulprakash Revathi Raj A rare cause of rectovaginal fistula in early infancy: It is in the genes!
description	Acquired Rectovaginal Fistula (RVF) is rare in infants. Interleukin10/ Interleukin 10 receptor deficiencies are monogenic disorders presenting as aggressive forms of infantile onset inflammatory bowel disease with perianal abscess and fistula. Genetic studies assist in confirming the diagnosis. We present a two month old infant with rectovaginal fistula, severe colitis, failure to thrive and recurrent infections in whom colonoscopy revealed irregular colonic ulcers, and genetic studies confirmed an IL10RB mutation. Hematopoietic Stem cell transplantation is the definitive therapy for this disorder which the child underwent. We report this infant with an acquired RVF with extraintestinal features due to IL10RB mutation to highlight the importance of thinking beyond the local anatomy and looking into the genetic domain.
format	article
author	Aravind Swaminathan Malathi Sathiyasekaran Swathi Padankatti Rajiv B Padankatti S Arulprakash Revathi Raj
author_facet	Aravind Swaminathan Malathi Sathiyasekaran Swathi Padankatti Rajiv B Padankatti S Arulprakash Revathi Raj
author_sort	Aravind Swaminathan
title	A rare cause of rectovaginal fistula in early infancy: It is in the genes!
title_short	A rare cause of rectovaginal fistula in early infancy: It is in the genes!
title_full	A rare cause of rectovaginal fistula in early infancy: It is in the genes!
title_fullStr	A rare cause of rectovaginal fistula in early infancy: It is in the genes!
title_full_unstemmed	A rare cause of rectovaginal fistula in early infancy: It is in the genes!
title_sort	rare cause of rectovaginal fistula in early infancy: it is in the genes!
publisher	Wolters Kluwer Medknow Publications
publishDate	2021
url	https://doaj.org/article/6519761bac9f4d569c8e8410e601faf7
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A rare cause of rectovaginal fistula in early infancy: It is in the genes!

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