Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10
Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and dea...
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| Veröffentlicht in: | Arquivos brasileiros de endocrinologia e metabologia 2008-11, Vol.52 (8), p.1345-1349 |
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| creator | Bergamin, Carla S Rolim, Luiz Clemente Dib, Sergio A Moisés, Regina S |
| description | Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction. |
| doi_str_mv | 10.1590/S0004-27302008000800023 |
| format | Article |
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This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction.</description><identifier>ISSN: 0004-2730</identifier><identifier>ISSN: 1677-9487</identifier><identifier>EISSN: 1677-9487</identifier><identifier>EISSN: 0004-2730</identifier><identifier>DOI: 10.1590/S0004-27302008000800023</identifier><identifier>PMID: 19169492</identifier><language>eng</language><publisher>Brazil: Sociedade Brasileira de Endocrinologia e Metabologia</publisher><subject>Deafness - complications ; Deafness - genetics ; Diabetes Complications ; Diabetes Mellitus - genetics ; DNA, Mitochondrial - genetics ; ENDOCRINOLOGY & METABOLISM ; Female ; Humans ; Intestinal Pseudo-Obstruction - drug therapy ; Intestinal Pseudo-Obstruction - genetics ; Middle Aged ; Pedigree ; Point Mutation - genetics ; Ubiquinone - analogs & derivatives ; Ubiquinone - therapeutic use ; Vitamins - therapeutic use</subject><ispartof>Arquivos brasileiros de endocrinologia e metabologia, 2008-11, Vol.52 (8), p.1345-1349</ispartof><rights>This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-38106d17bf1cabc256b781ca7548e030ec9fe4b8126de42cd8c628c8756172773</citedby><cites>FETCH-LOGICAL-c399t-38106d17bf1cabc256b781ca7548e030ec9fe4b8126de42cd8c628c8756172773</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19169492$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bergamin, Carla S</creatorcontrib><creatorcontrib>Rolim, Luiz Clemente</creatorcontrib><creatorcontrib>Dib, Sergio A</creatorcontrib><creatorcontrib>Moisés, Regina S</creatorcontrib><title>Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10</title><title>Arquivos brasileiros de endocrinologia e metabologia</title><addtitle>Arq Bras Endocrinol Metabol</addtitle><description>Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction.</description><subject>Deafness - complications</subject><subject>Deafness - genetics</subject><subject>Diabetes Complications</subject><subject>Diabetes Mellitus - genetics</subject><subject>DNA, Mitochondrial - genetics</subject><subject>ENDOCRINOLOGY & METABOLISM</subject><subject>Female</subject><subject>Humans</subject><subject>Intestinal Pseudo-Obstruction - drug therapy</subject><subject>Intestinal Pseudo-Obstruction - genetics</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Point Mutation - genetics</subject><subject>Ubiquinone - analogs & derivatives</subject><subject>Ubiquinone - therapeutic use</subject><subject>Vitamins - therapeutic use</subject><issn>0004-2730</issn><issn>1677-9487</issn><issn>1677-9487</issn><issn>0004-2730</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9UV1LHDEUDUWpW9u_UPNU2ofRJPOR5LFoqwuKlHafh0zmDkZmkjUflvXP-FfNOos-CAZCcnPOPYeci9ARJce0luTkLyGkKhgvCSNEkHmz8gNa0IbzQlaC76HFC-kAfQrhNjMqKdlHdEAlbWQl2QI9rmwKSY3YaZ28B6sBuwEbGyFEYzOwDpB6h10Xok86GmczihVeq2jARvzfxBs8qQg-s8dNBm_Amwg97o3qIOtgZXMBarAQAv5-tTw7-_H8Nqh751U3ZssUtZtgFtMO7MMmV38o-Yz2BzUG-LI7D9Hq969_pxfF5fX58vTnZaFLKWNRCkqanvJuoFp1mtVNx0W-8roSQEoCWg5QdYKypoeK6V7ohgkteN1QzjgvD9HxrBu0gdG1ty5t_xPa56TbN0nnhm9zw9q7u5TDaicTNIyjsuBSaJu8aM22ynwmau9C8DC0a28m5TctJe12mO9YfN1ZpG6C_rVvN73yCd-Yme0</recordid><startdate>20081101</startdate><enddate>20081101</enddate><creator>Bergamin, Carla S</creator><creator>Rolim, Luiz Clemente</creator><creator>Dib, Sergio A</creator><creator>Moisés, Regina S</creator><general>Sociedade Brasileira de Endocrinologia e Metabologia</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>GPN</scope></search><sort><creationdate>20081101</creationdate><title>Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10</title><author>Bergamin, Carla S ; Rolim, Luiz Clemente ; Dib, Sergio A ; Moisés, Regina S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-38106d17bf1cabc256b781ca7548e030ec9fe4b8126de42cd8c628c8756172773</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Deafness - complications</topic><topic>Deafness - genetics</topic><topic>Diabetes Complications</topic><topic>Diabetes Mellitus - genetics</topic><topic>DNA, Mitochondrial - genetics</topic><topic>ENDOCRINOLOGY & METABOLISM</topic><topic>Female</topic><topic>Humans</topic><topic>Intestinal Pseudo-Obstruction - drug therapy</topic><topic>Intestinal Pseudo-Obstruction - genetics</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Point Mutation - genetics</topic><topic>Ubiquinone - analogs & derivatives</topic><topic>Ubiquinone - therapeutic use</topic><topic>Vitamins - therapeutic use</topic><toplevel>online_resources</toplevel><creatorcontrib>Bergamin, Carla S</creatorcontrib><creatorcontrib>Rolim, Luiz Clemente</creatorcontrib><creatorcontrib>Dib, Sergio A</creatorcontrib><creatorcontrib>Moisés, Regina S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>SciELO</collection><jtitle>Arquivos brasileiros de endocrinologia e metabologia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bergamin, Carla S</au><au>Rolim, Luiz Clemente</au><au>Dib, Sergio A</au><au>Moisés, Regina S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10</atitle><jtitle>Arquivos brasileiros de endocrinologia e metabologia</jtitle><addtitle>Arq Bras Endocrinol Metabol</addtitle><date>2008-11-01</date><risdate>2008</risdate><volume>52</volume><issue>8</issue><spage>1345</spage><epage>1349</epage><pages>1345-1349</pages><issn>0004-2730</issn><issn>1677-9487</issn><eissn>1677-9487</eissn><eissn>0004-2730</eissn><abstract>Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. 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| subjects | Deafness - complications Deafness - genetics Diabetes Complications Diabetes Mellitus - genetics DNA, Mitochondrial - genetics ENDOCRINOLOGY & METABOLISM Female Humans Intestinal Pseudo-Obstruction - drug therapy Intestinal Pseudo-Obstruction - genetics Middle Aged Pedigree Point Mutation - genetics Ubiquinone - analogs & derivatives Ubiquinone - therapeutic use Vitamins - therapeutic use |
| title | Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10 |
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