Pierre-Jean Guillausseau, MD; Pascale Massin, MD; Danièle Dubois-LaForgue, MD; José Timsit, MD; Marie Virally, MD; Henri Gin, MD, PhD; Eric Bertin, MD, PhD; Jean-Frédéric Blickle, MD; Béatrice Bouhanick, MD; Juliette Cahen, MD; Sophie Caillat-Zucman, MD; Guillaume Charpentier, MD; Pierre Chedin, MD; Christèle Derrien, MD; Pierre-Henri Ducluzeau, MD; André Grimaldi, MD; Bruno Guerci, MD; Edgar Kaloustian, MD; Arnaud Murat, MD; Frédérique Olivier, MD; Michel Paques, MD, PhD; Véronique Paquis-Flucklinger, MD, PhD; Béatrice Porokhov, MD; Julien Samuel-Lajeunesse, MD; Bernard Vialettes, MD, MS
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, firstname.lastname@example.org.
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.
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.
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.
Multicenter prospective descriptive study.
16 French departments of internal medicine, diabetes and metabolic diseases, or both.
54 patients with type 2 diabetes mellitus and the mtDNA 3243 mutation.
Characteristics of diabetes, metabolic control (glycosylated hemoglobin level), complications of diabetes, and involvement of other organs.
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.
Maternally inherited diabetes and deafness has a specific clinical profile that may help identify diabetic patients for mtDNA testing.
Guillausseau P, Massin P, Dubois-LaForgue D, et al. Maternally Inherited Diabetes and Deafness: A Multicenter Study. Ann Intern Med. 2001;134:721–728. doi: 10.7326/0003-4819-134-9_Part_1-200105010-00008
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Published: Ann Intern Med. 2001;134(9_Part_1):721-728.
Cardiology, Coronary Risk Factors, Diabetes, Endocrine and Metabolism.
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