title: Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study.
abstract: OBJECTIVE
  We assessed the prevalence and determinants of retinal and renal complications in patients with maternally inherited diabetes and deafness (MIDD).
  
  
  METHODS
  This was a multicentre prospective study comparing the prevalence of retinopathy and renal disease in 74 patients with MIDD and 134 control patients matched for sex, age and clinical presentation at onset of diabetes, duration of diabetes and current treatment. Comparisons were adjusted for HbA(1c) and hypertension.
  
  
  RESULTS
  In MIDD patients, HbA(1c) (7.6 +/- 1.6 vs 8.5 +/- 2.0%, p < 0.002), systolic blood pressure (126.6 +/- 16.2 vs 133.1 +/- 17.3 mmHg, p < 0.007) and prevalence of hypertension (33.8 vs 64.2%, p < 0.0001) were lower than in control patients. Prevalence of diabetic retinopathy was 3.7-fold lower in MIDD patients (6/74, 8 vs 40/134, 29.6%, p < 0.0001). Differences between groups remained significant after adjustment for hypertension, systolic blood pressure and HbA(1c). In MIDD, urinary albumin excretion (314.8 vs 80.1 mg/24 h, p = 0.035) and creatinine plasma levels (103.5 vs 82.2 micromol/l, p = 0.0178) were higher and GFR was lower. Impaired renal function (GFR <60 ml/min) was four- to sixfold more frequent in MIDD. Differences between MIDD and control diabetic patients further increased when adjusted for HbA(1c) and systolic blood pressure (p < 0.0001). Adjustment for treatment with an ACE inhibitor or angiotensin II receptor antagonist did not modify the results.
  
  
  CONCLUSIONS
  This study indicates that diabetic retinopathy is less prevalent in MIDD than in control diabetes. This suggests that retinal alterations due to mitochondrial disease may have a protective role. By contrast, nephropathy is far more frequent in MIDD, suggesting the presence of a specific renal disease independent of diabetic nephropathy.
authors.affiliation: APHP, Department of Ophthalmology, Lariboisiere Hospital, University Paris 7 Denis-Diderot, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Massin
authors.forename: D
authors.initials: D
authors.lastname: Dubois-Laforgue
authors.forename: T
authors.initials: T
authors.lastname: Meas
authors.forename: M
authors.initials: M
authors.lastname: Laloi-Michelin
authors.forename: H
authors.initials: H
authors.lastname: Gin
authors.forename: B
authors.initials: B
authors.lastname: Bauduceau
authors.forename: C
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: E
authors.initials: E
authors.lastname: Bertin
authors.forename: J-F
authors.initials: JF
authors.lastname: Blickle
authors.forename: B
authors.initials: B
authors.lastname: Bouhanick
authors.forename: J
authors.initials: J
authors.lastname: Cahen-Varsaux
authors.forename: S
authors.initials: S
authors.lastname: Casanova
authors.forename: G
authors.initials: G
authors.lastname: Charpentier
authors.forename: P
authors.initials: P
authors.lastname: Chedin
authors.forename: O
authors.initials: O
authors.lastname: Dupuy
authors.forename: A
authors.initials: A
authors.lastname: Grimaldi
authors.forename: B
authors.initials: B
authors.lastname: Guerci
authors.forename: E
authors.initials: E
authors.lastname: Kaloustian
authors.forename: A
authors.initials: A
authors.lastname: Lecleire-Collet
authors.forename: F
authors.initials: F
authors.lastname: Lorenzini
authors.forename: A
authors.initials: A
authors.lastname: Murat
authors.forename: H
authors.initials: H
authors.lastname: Narbonne
authors.forename: F
authors.initials: F
authors.lastname: Olivier
authors.forename: V
authors.initials: V
authors.lastname: Paquis-Flucklinger
authors.forename: M
authors.initials: M
authors.lastname: Virally
authors.forename: M
authors.initials: M
authors.lastname: Vincenot
authors.forename: B
authors.initials: B
authors.lastname: Vialettes
authors.forename: J
authors.initials: J
authors.lastname: Timsit
authors.forename: P J
authors.initials: PJ
authors.lastname: Guillausseau
mesh_terms: D001794:Blood Pressure; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003925:Diabetic Angiopathies / Q000235:genetics; D003928:Diabetic Nephropathies / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005919:Glomerular Filtration Rate; D006442:Glycated Hemoglobin / Q000032:analysis; D006801:Humans; D007674:Kidney Diseases / Q000453:epidemiology / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012164:Retinal Diseases / Q000453:epidemiology / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D006442:Glycated Hemoglobin