title: Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.
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.
  
  
  CONCLUSIONS
  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.
  
  
  BACKGROUND
  • 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.
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany. Christina.reinauer@uni-duesseldorf.de.
authors.forename: Christina
authors.initials: C
authors.lastname: Reinauer
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.|German Center for Diabetes Research (DZD e.V.), Partners Düsseldorf and Ulm, Düsseldorf, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Meissner
authors.affiliation: German Center for Diabetes Research (DZD e.V.), Partners Düsseldorf and Ulm, Düsseldorf, Germany.|Department of Endocrinology and Diabetology, Medical Faculty, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.|Institute for Clinical Diabetology, German Diabetes Center at Heinrich Heine University Düsseldorf, Leibniz Center for Diabetes Research, German Center for Diabetes Research (DZD), 40225, Düsseldorf, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Roden
authors.affiliation: Department of Pediatric Pneumology, Allergology & Neonatology, Children's Hospital, Hannover Medical School, 30625, Hannover, Germany.
authors.forename: Angelika
authors.initials: A
authors.lastname: Thon
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts University Kiel, 24118, Kiel, Germany.
authors.forename: Paul-Martin
authors.initials: PM
authors.lastname: Holterhus
authors.affiliation: Hospital for Children and Adolescents, Sana Hospital Berlin Lichtenberg, 10365, Berlin, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Haberland
authors.affiliation: Department of Pediatrics, Medical University of Innsbruck, A 6020, Innsbruck, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Binder
authors.affiliation: Center for Pediatrics and Adolescent Medicine, Bremen-Mitte Hospital, 28211, Bremen, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Marg
authors.affiliation: Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, German Center for Diabetes Research (DZD), 89081, Ulm, Germany.
authors.forename: Esther
authors.initials: E
authors.lastname: Bollow
authors.affiliation: Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, German Center for Diabetes Research (DZD), 89081, Ulm, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Holl
mesh_terms: D000293:Adolescent; D000328:Adult; D001317:Austria / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000453:epidemiology*; D015995:Prevalence; D012042:Registries; D012189:Retrospective Studies; D055815:Young Adult
keywords: Diabetes mellitus; Kearns-Sayre syndrome; MELAS; MIDD; Maternally inherited diabetes and deafness; Mitochondrial disorders; Pediatric