Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry
The aim of this study was to characterize the phenotype and treatment of young patients (manifestation
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Veröffentlicht in: | European journal of pediatrics 2016-05, Vol.175 (5), p.613-622 |
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container_title | European journal of pediatrics |
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creator | Reinauer, Christina Meissner, Thomas Roden, Michael Thon, Angelika Holterhus, Paul-Martin Haberland, Holger Binder, Elisabeth Marg, Wolfgang Bollow, Esther Holl, Reinhard |
description | The aim of this study was to characterize the phenotype and treatment of young patients (manifestation |
doi_str_mv | 10.1007/s00431-015-2675-5 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1783917618</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1783917618</sourcerecordid><originalsourceid>FETCH-LOGICAL-c372t-f8fa35e4494f31379a09dcbf59a424b92b0dd7b1545e10a517fede3089a8fd0d3</originalsourceid><addsrcrecordid>eNp1kU9v1DAQxS0EokvhA3BBlrhwCR3_i-NjVaAgrUQPhavlxOOuq8RZ7ISq3x6vtiBUqaeRZn7vzWgeIW8ZfGQA-qwASMEaYKrhrVaNekY2TAreMNDtc7IBIaFpmTEn5FUpt1A1hnUvyQlvWw3A2w3pt_Md3Wf87UZMA9I50L1bIqal0Lu47OgUl3nYzcnn6EbqY0FXkMZElx3SS8yTS2fna1nqONFPVz8r4npcsNCMN7H271-TF8GNBd881FPy48vn64uvzfb75beL820zCM2XJnTBCYVSGhkEE9o4MH7ogzJOctkb3oP3umdKKmTgFNMBPQrojOuCBy9OyYej7z7Pv1Ysi51iGXAcXcJ5LZbpThimW9ZV9P0j9HZec6rXHSheMQFtpdiRGvJcSsZg9zlOLt9bBvYQgD0GYGsA9hCAVVXz7sF57Sf0_xR_P14BfgRKHaUbzP-tftL1D71VkKI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1782391306</pqid></control><display><type>article</type><title>Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Reinauer, Christina ; Meissner, Thomas ; Roden, Michael ; Thon, Angelika ; Holterhus, Paul-Martin ; Haberland, Holger ; Binder, Elisabeth ; Marg, Wolfgang ; Bollow, Esther ; Holl, Reinhard</creator><creatorcontrib>Reinauer, Christina ; Meissner, Thomas ; Roden, Michael ; Thon, Angelika ; Holterhus, Paul-Martin ; Haberland, Holger ; Binder, Elisabeth ; Marg, Wolfgang ; Bollow, Esther ; Holl, Reinhard</creatorcontrib><description>The aim of this study was to characterize the phenotype and treatment of young patients (manifestation <30 years) with diabetes of mitochondrial origin (DMO), based on the German/Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry. Only 13 (0.02 %) of all patients with diabetes in this cohort were identified with DMO, mainly due to the Kearns-Sayre (
n
= 5), Pearson (
n
= 3), or mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (
n
= 2). The onset of DMO (14.2, interquartile range (IQR) 7.1–16 years) was later than diabetes onset in individuals with T1D but earlier than in T2D. At manifestation, patients exhibited a mild elevation of blood glucose concentrations (251, IQR 178–299 mg/dl) without ketoacidosis. They had lower body mass index (BMI) values (−1.39 ± 0.28 kg/m
2
) than peers with T1D or T2D (
p
< 0.0001) and higher triglycerides (211, IQR 134–574 mg/dl) than in T1D (
p
= 0.04) while there was a high rate of dyslipidemia (86 %). Insulin requirements (0.58, IQR 0.37–0.90 U/kg/d) were between T1D and T2D while glucometabolic control (glycated hemoglobin A1c (HbA1c) 7.4 ± 0.52 %) in DMO was comparable to age-matched T2D and stable over a 5-year follow-up.
Conclusion
: Primary mitochondrial disorders are a rare cause of juvenile diabetes and likely to be underdiagnosed. As there is clinical overlap with T1D and T2D, dyslipidemia and low body weight may help to identify further DMO cases.
What is Known:
•
In adults diabetes of mitochondrial origin (DMO) is a rare cause of non-autoimmune diabetes, affecting about 0.8 % of diabetes cases.
•
Common features are a maternal family history of diabetes, hearing loss and neurological abnormalities.
What is New:
•
In our juvenile cohort 0.02 % of diabetes patients (age < 30 years) were affected by DMO, while Kearns Sayre, MELAS and Pearson syndrome were the most frequent entities.
•
Juvenile DMO patients exhibited dyslipidemia, higher triglycerides and a lower BMI than peers with T1D or T2D, while some patients also showed retinal changes.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-015-2675-5</identifier><identifier>PMID: 26670026</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Acidosis ; Adolescent ; Adult ; Age ; Austria - epidemiology ; Body mass index ; Child ; Child, Preschool ; Diabetes ; Diabetes Mellitus - epidemiology ; Diabetes Mellitus - etiology ; Disease ; Endocrinology ; Female ; Follow-Up Studies ; Genotype & phenotype ; Germany - epidemiology ; Hospitals ; Humans ; Male ; Medicine ; Medicine & Public Health ; Metabolic disorders ; Mitochondrial Diseases - complications ; Mitochondrial Diseases - epidemiology ; Mitochondrial DNA ; Mutation ; Neonatal care ; Original Article ; Pediatrics ; Prevalence ; Registries ; Retrospective Studies ; Teenagers ; Triglycerides ; Young Adult</subject><ispartof>European journal of pediatrics, 2016-05, Vol.175 (5), p.613-622</ispartof><rights>Springer-Verlag Berlin Heidelberg 2015</rights><rights>Springer-Verlag Berlin Heidelberg 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-f8fa35e4494f31379a09dcbf59a424b92b0dd7b1545e10a517fede3089a8fd0d3</citedby><cites>FETCH-LOGICAL-c372t-f8fa35e4494f31379a09dcbf59a424b92b0dd7b1545e10a517fede3089a8fd0d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00431-015-2675-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00431-015-2675-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27922,27923,41486,42555,51317</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26670026$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Reinauer, Christina</creatorcontrib><creatorcontrib>Meissner, Thomas</creatorcontrib><creatorcontrib>Roden, Michael</creatorcontrib><creatorcontrib>Thon, Angelika</creatorcontrib><creatorcontrib>Holterhus, Paul-Martin</creatorcontrib><creatorcontrib>Haberland, Holger</creatorcontrib><creatorcontrib>Binder, Elisabeth</creatorcontrib><creatorcontrib>Marg, Wolfgang</creatorcontrib><creatorcontrib>Bollow, Esther</creatorcontrib><creatorcontrib>Holl, Reinhard</creatorcontrib><title>Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><addtitle>Eur J Pediatr</addtitle><description>The aim of this study was to characterize the phenotype and treatment of young patients (manifestation <30 years) with diabetes of mitochondrial origin (DMO), based on the German/Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry. Only 13 (0.02 %) of all patients with diabetes in this cohort were identified with DMO, mainly due to the Kearns-Sayre (
n
= 5), Pearson (
n
= 3), or mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (
n
= 2). The onset of DMO (14.2, interquartile range (IQR) 7.1–16 years) was later than diabetes onset in individuals with T1D but earlier than in T2D. At manifestation, patients exhibited a mild elevation of blood glucose concentrations (251, IQR 178–299 mg/dl) without ketoacidosis. They had lower body mass index (BMI) values (−1.39 ± 0.28 kg/m
2
) than peers with T1D or T2D (
p
< 0.0001) and higher triglycerides (211, IQR 134–574 mg/dl) than in T1D (
p
= 0.04) while there was a high rate of dyslipidemia (86 %). Insulin requirements (0.58, IQR 0.37–0.90 U/kg/d) were between T1D and T2D while glucometabolic control (glycated hemoglobin A1c (HbA1c) 7.4 ± 0.52 %) in DMO was comparable to age-matched T2D and stable over a 5-year follow-up.
Conclusion
: Primary mitochondrial disorders are a rare cause of juvenile diabetes and likely to be underdiagnosed. As there is clinical overlap with T1D and T2D, dyslipidemia and low body weight may help to identify further DMO cases.
What is Known:
•
In adults diabetes of mitochondrial origin (DMO) is a rare cause of non-autoimmune diabetes, affecting about 0.8 % of diabetes cases.
•
Common features are a maternal family history of diabetes, hearing loss and neurological abnormalities.
What is New:
•
In our juvenile cohort 0.02 % of diabetes patients (age < 30 years) were affected by DMO, while Kearns Sayre, MELAS and Pearson syndrome were the most frequent entities.
•
Juvenile DMO patients exhibited dyslipidemia, higher triglycerides and a lower BMI than peers with T1D or T2D, while some patients also showed retinal changes.</description><subject>Acidosis</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Austria - epidemiology</subject><subject>Body mass index</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Diabetes</subject><subject>Diabetes Mellitus - epidemiology</subject><subject>Diabetes Mellitus - etiology</subject><subject>Disease</subject><subject>Endocrinology</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Genotype & phenotype</subject><subject>Germany - epidemiology</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic disorders</subject><subject>Mitochondrial Diseases - complications</subject><subject>Mitochondrial Diseases - epidemiology</subject><subject>Mitochondrial DNA</subject><subject>Mutation</subject><subject>Neonatal care</subject><subject>Original Article</subject><subject>Pediatrics</subject><subject>Prevalence</subject><subject>Registries</subject><subject>Retrospective Studies</subject><subject>Teenagers</subject><subject>Triglycerides</subject><subject>Young Adult</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kU9v1DAQxS0EokvhA3BBlrhwCR3_i-NjVaAgrUQPhavlxOOuq8RZ7ISq3x6vtiBUqaeRZn7vzWgeIW8ZfGQA-qwASMEaYKrhrVaNekY2TAreMNDtc7IBIaFpmTEn5FUpt1A1hnUvyQlvWw3A2w3pt_Md3Wf87UZMA9I50L1bIqal0Lu47OgUl3nYzcnn6EbqY0FXkMZElx3SS8yTS2fna1nqONFPVz8r4npcsNCMN7H271-TF8GNBd881FPy48vn64uvzfb75beL820zCM2XJnTBCYVSGhkEE9o4MH7ogzJOctkb3oP3umdKKmTgFNMBPQrojOuCBy9OyYej7z7Pv1Ysi51iGXAcXcJ5LZbpThimW9ZV9P0j9HZec6rXHSheMQFtpdiRGvJcSsZg9zlOLt9bBvYQgD0GYGsA9hCAVVXz7sF57Sf0_xR_P14BfgRKHaUbzP-tftL1D71VkKI</recordid><startdate>20160501</startdate><enddate>20160501</enddate><creator>Reinauer, Christina</creator><creator>Meissner, Thomas</creator><creator>Roden, Michael</creator><creator>Thon, Angelika</creator><creator>Holterhus, Paul-Martin</creator><creator>Haberland, Holger</creator><creator>Binder, Elisabeth</creator><creator>Marg, Wolfgang</creator><creator>Bollow, Esther</creator><creator>Holl, Reinhard</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</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>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20160501</creationdate><title>Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry</title><author>Reinauer, Christina ; Meissner, Thomas ; Roden, Michael ; Thon, Angelika ; Holterhus, Paul-Martin ; Haberland, Holger ; Binder, Elisabeth ; Marg, Wolfgang ; Bollow, Esther ; Holl, Reinhard</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c372t-f8fa35e4494f31379a09dcbf59a424b92b0dd7b1545e10a517fede3089a8fd0d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Acidosis</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Austria - epidemiology</topic><topic>Body mass index</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Diabetes</topic><topic>Diabetes Mellitus - epidemiology</topic><topic>Diabetes Mellitus - etiology</topic><topic>Disease</topic><topic>Endocrinology</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Genotype & phenotype</topic><topic>Germany - epidemiology</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic disorders</topic><topic>Mitochondrial Diseases - complications</topic><topic>Mitochondrial Diseases - epidemiology</topic><topic>Mitochondrial DNA</topic><topic>Mutation</topic><topic>Neonatal care</topic><topic>Original Article</topic><topic>Pediatrics</topic><topic>Prevalence</topic><topic>Registries</topic><topic>Retrospective Studies</topic><topic>Teenagers</topic><topic>Triglycerides</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Reinauer, Christina</creatorcontrib><creatorcontrib>Meissner, Thomas</creatorcontrib><creatorcontrib>Roden, Michael</creatorcontrib><creatorcontrib>Thon, Angelika</creatorcontrib><creatorcontrib>Holterhus, Paul-Martin</creatorcontrib><creatorcontrib>Haberland, Holger</creatorcontrib><creatorcontrib>Binder, Elisabeth</creatorcontrib><creatorcontrib>Marg, Wolfgang</creatorcontrib><creatorcontrib>Bollow, Esther</creatorcontrib><creatorcontrib>Holl, Reinhard</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Reinauer, Christina</au><au>Meissner, Thomas</au><au>Roden, Michael</au><au>Thon, Angelika</au><au>Holterhus, Paul-Martin</au><au>Haberland, Holger</au><au>Binder, Elisabeth</au><au>Marg, Wolfgang</au><au>Bollow, Esther</au><au>Holl, Reinhard</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry</atitle><jtitle>European journal of pediatrics</jtitle><stitle>Eur J Pediatr</stitle><addtitle>Eur J Pediatr</addtitle><date>2016-05-01</date><risdate>2016</risdate><volume>175</volume><issue>5</issue><spage>613</spage><epage>622</epage><pages>613-622</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><abstract>The aim of this study was to characterize the phenotype and treatment of young patients (manifestation <30 years) with diabetes of mitochondrial origin (DMO), based on the German/Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry. Only 13 (0.02 %) of all patients with diabetes in this cohort were identified with DMO, mainly due to the Kearns-Sayre (
n
= 5), Pearson (
n
= 3), or mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (
n
= 2). The onset of DMO (14.2, interquartile range (IQR) 7.1–16 years) was later than diabetes onset in individuals with T1D but earlier than in T2D. At manifestation, patients exhibited a mild elevation of blood glucose concentrations (251, IQR 178–299 mg/dl) without ketoacidosis. They had lower body mass index (BMI) values (−1.39 ± 0.28 kg/m
2
) than peers with T1D or T2D (
p
< 0.0001) and higher triglycerides (211, IQR 134–574 mg/dl) than in T1D (
p
= 0.04) while there was a high rate of dyslipidemia (86 %). Insulin requirements (0.58, IQR 0.37–0.90 U/kg/d) were between T1D and T2D while glucometabolic control (glycated hemoglobin A1c (HbA1c) 7.4 ± 0.52 %) in DMO was comparable to age-matched T2D and stable over a 5-year follow-up.
Conclusion
: Primary mitochondrial disorders are a rare cause of juvenile diabetes and likely to be underdiagnosed. As there is clinical overlap with T1D and T2D, dyslipidemia and low body weight may help to identify further DMO cases.
What is Known:
•
In adults diabetes of mitochondrial origin (DMO) is a rare cause of non-autoimmune diabetes, affecting about 0.8 % of diabetes cases.
•
Common features are a maternal family history of diabetes, hearing loss and neurological abnormalities.
What is New:
•
In our juvenile cohort 0.02 % of diabetes patients (age < 30 years) were affected by DMO, while Kearns Sayre, MELAS and Pearson syndrome were the most frequent entities.
•
Juvenile DMO patients exhibited dyslipidemia, higher triglycerides and a lower BMI than peers with T1D or T2D, while some patients also showed retinal changes.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>26670026</pmid><doi>10.1007/s00431-015-2675-5</doi><tpages>10</tpages></addata></record> |
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issn | 0340-6199 1432-1076 |
language | eng |
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source | MEDLINE; SpringerLink Journals - AutoHoldings |
subjects | Acidosis Adolescent Adult Age Austria - epidemiology Body mass index Child Child, Preschool Diabetes Diabetes Mellitus - epidemiology Diabetes Mellitus - etiology Disease Endocrinology Female Follow-Up Studies Genotype & phenotype Germany - epidemiology Hospitals Humans Male Medicine Medicine & Public Health Metabolic disorders Mitochondrial Diseases - complications Mitochondrial Diseases - epidemiology Mitochondrial DNA Mutation Neonatal care Original Article Pediatrics Prevalence Registries Retrospective Studies Teenagers Triglycerides Young Adult |
title | Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry |
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