Maternally Inherited Diabetes and Deafness: A Multicenter Study

  1. Pierre-Jean Guillausseau, MD;
  2. Pascale Massin, MD;
  3. Danièle Dubois-LaForgue, MD;
  4. José Timsit, MD;
  5. Marie Virally, MD;
  6. Henri Gin, MD, PhD;
  7. Eric Bertin, MD, PhD;
  8. Jean-Frédéric Blickle, MD;
  9. Béatrice Bouhanick, MD;
  10. Juliette Cahen, MD;
  11. Sophie Caillat-Zucman, MD;
  12. Guillaume Charpentier, MD;
  13. Pierre Chedin, MD;
  14. Christèle Derrien, MD;
  15. Pierre-Henri Ducluzeau, MD;
  16. André Grimaldi, MD;
  17. Bruno Guerci, MD;
  18. Edgar Kaloustian, MD;
  19. Arnaud Murat, MD;
  20. Frédérique Olivier, MD;
  21. Michel Paques, MD, PhD;
  22. Véronique Paquis-Flucklinger, MD, PhD;
  23. Béatrice Porokhov, MD;
  24. Julien Samuel-Lajeunesse, MD; and
  25. Bernard Vialettes, MD, MS
  1. From Lariboisière Hospital, Necker Hospital, and Pitié-Salpêtrière Hospital, Paris; University Hospital, Pessac; Robert Debré Hospital, Reims; University Hospital, Strasbourg; University Hospital, Angers; Victor-Dupouy Hospital, Argenteuil; Gilles de Corbeil Hospital, Corbeil; University Hospital, Rennes; Edouard-Herriot Hospital, Lyon; Jeanne d'Arc Hospital, Dommartin-les-Toul; Hospital, Compiègne; Hôtel Dieu Hospital, Nantes; Hospital, Cahors; UMR Centre National pour la Recherche Scientifique 6549, Nice; and Sainte Marguerite Hospital, Marseille, France.

    Abstract

    Background: Maternally inherited diabetes and deafness (MIDD), which is seen in 0.5% to 2.8% of patients with type 2 diabetes mellitus, is related to a point mutation at position 3243 of mitochondrial (mt) DNA. Its clinical description is incomplete.

    Objective: To study the clinical presentation and complications of diabetes in patients with MIDD and to identify clinical characteristics that may help select diabetic patients for mtDNA mutation screening.

    Design: Multicenter prospective descriptive study.

    Setting: 16 French departments of internal medicine, diabetes and metabolic diseases, or both.

    Patients: 54 patients with type 2 diabetes mellitus and the mtDNA 3243 mutation.

    Measurements: Characteristics of diabetes, metabolic control (glycosylated hemoglobin level), complications of diabetes, and involvement of other organs.

    Results: On average, patients with MIDD were young at diabetes onset and presented with a normal or low body mass index. None were obese. Seventy-three percent of probands had a maternal family history of diabetes. Diabetes was non–insulin-dependent at onset in 87% of patients; however, 46% of patients had non–insulin-dependent disease at onset but progressed to insulin therapy after a mean duration of approximately 10 years. Neurosensory hearing loss was present in almost all patients. Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinal lesion). Forty-three percent of patients had myopathy, 15% had cardiomyopathy, and 18% (9 of 51) had neuropsychiatric symptoms. Although the prevalence of diabetic retinopathy was 8% among patients who received an ophthalmologic examination, lower than expected after a mean 12-year duration of diabetes, prevalence of kidney disease was 28%. This suggests that a specific renal involvement was the result of mitochondrial disease.

    Conclusions: Maternally inherited diabetes and deafness has a specific clinical profile that may help identify diabetic patients for mtDNA testing.

    Article and Author Information

    • Acknowledgments: The authors thank Mrs. Edith Audran for determination of mtDNA mutations; Mrs. Estelle André for secretarial assistance; and Ms. Catriona Donagh and David F. Mason, MD, for editorial assistance.

    • Requests for Single Reprints: Pierre-Jean Guillausseau, MD, Medecine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France; e-mail, pierre-jean.guillausseau{at}lrb.ap-hop-paris.fr.

    • Current Author Addresses: Drs. Guillausseau, Virally, Porokhov, and Samuel-Lajeunesse: Department of Medicine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, University Paris 7-Denis Diderot, France.

    • Drs. Massin and Paques: Department of Ophthalmology, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France.

    • Drs. Dubois-LaForgue and Timsit: Diabetes Unit, Department of Clinical Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.

    • Dr. Gin: University Hospital, avenue Magellan, F33064 Pessac, France.

    • Dr. Bertin: Robert-Debré Hospital, rue Cognacq-Jay, F51100 Reims, France.

    • Dr. Blickle: University Hospital, 1 place de l'Hopital, F67091 Strasbourg, France.

    • Dr. Bouhanick: University Hospital, rue Larrey, F49033 Angers, France.

    • Drs. Cahen and Chedin: Victor-Dupouy Hospital, 69 rue du Lt-Colonel Prud'hon, F95107 Argenteuil, France.

    • Dr. Caillat-Zucman: Laboratory of Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.

    • Dr. Charpentier: Gilles de Corbeil Hospital, 59 boulevard Henri-Dunant, F91106 Corbeil, France.

    • Dr. Derrien: University Hospital, 16 boulevard de Bulgarie, F35056 Rennes, France.

    • Dr. Ducluzeau: Edouard-Herriot Hospital, place d'Arsonval, F69437 Lyon, France.

    • Dr. Grimaldi: Pitié-Salpêtrière Hospital, 83 boulevard de l'Hôpital, F75013 Paris, France.

    • Dr. Guerci: Jeanne d'Arc Hospital, BP 303, F54201 Dommartin-les-Toul, France.

    • Dr. Kaloustian: Hospital, 8 avenue Henri-Adnot, F60324 Compiègne, France.

    • Dr. Murat: Hôtel Dieu Hospital, 1 place Alexis-Ricordeau, F44035 Nantes, France.

    • Dr. Olivier: Hospital, 335 rue du Président Wilson, F46005 Cahors, France.

    • Dr. Paquis-Flucklinger: UMR Centre National pour la Recherche Scientifique 6549, Faculty of Medicine, avenue de Valombrose, F06107 Nice, France.

    • Dr. Vialettes: Sainte Marguerite Hospital, 270 boulevard Sainte-Marguerite, F13274 Marseille, France.

    • Author Contributions: Conception and design: P.J. Guillausseau, P. Massin, H. Gin, B. Vialettes.

    • Analysis and interpretation of the data: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally.

    • Drafting of the article: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit.

    • Critical revision of the article for important intellectual content: P. Massin, J. Timsit, M. Virally, B. Vialettes.

    • Final approval of the article: P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.

    • Provision of study materials or patients: P.J. Guillausseau, D. Dubois-LaForgue, J. Timsit, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.

    • Obtaining of funding: D. Dubois-LaForgue

    • Collection and assembly of data: P.J. Guillausseau.

    Summary for Patients

    • Summaries for Patients:Complications of Diabetes and Deafness Inherited through the Patient's Mother Ann Intern Med May 1, 2001 134:S0
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    1. Ann Intern Med May 1, 2001 vol. 134 no. 9 Part 1 721-728
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