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The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation

Bruno Guéry^*, Gabriel Choukroun, Laure-Hélène Noël^*, Pierre Clavel, Agnès Rötig, Sophie Lebon, Pierre Rustin, Christine Bellané-Chantelot^¶, Béatrice Mougenot^#, Jean-Pierre Grünfeld^* and Dominique Chauveau^*

*Service de Néphrologie and INSERM U507, Hôpital Necker, Paris; Service de Néphrologie, Hôpital Sud, Amiens; Service de Néphrologie, Hôpital de Brabois, Vandoeuvre-lès-Nancy; Département de Génétique Médicale and INSERM U393, Hôpital Necker, Paris; ^¶Laboratoire d’Embryologie Pathologique et de Cytogénétique, Hôpital Saint-Antoine, Paris; and ^#Service d’Anatomie Pathologique, Hôpital Tenon, Paris.

Correspondence to: Dr. Dominique Chauveau, Service de Néphrologie, Hôpital Necker, 149, rue de Sèvres, 75015 PARIS. Phone: 331-44-49-49-59; Fax: 331-44-49-54-50;

ABSTRACT. The A3243G mutation of the mitochondrial tRNA(Leu) gene has been recently reported in rare patients with focal and segmental glomerulosclerosis (FSGS). However, the full spectrum of systemic and kidney manifestations in adults presenting with this mutation remains poorly defined. Assessment of renal and nonrenal manifestations was performed in nine patients with A3243G mutation and prominent kidney disease diagnosed in adulthood. At first renal evaluation, median age was 35 years. Renal lesions consisted of FSGS (n = 2), tubulointerstitial nephropathy (n = 3), or bilateral enlarged cystic kidneys (n = 1). All but one patient exhibited extrarenal manifestations: deafness (8 of 9) requiring hearing aid in half the cases, diabetes mellitus (3 of 9), neuromuscular involvement (2 of 9), hypertrophic cardiomyopathy (1 of 9), and macular dystrophy (1 of 9). After a median follow-up of 5 yr, five patients progressed to end-stage renal disease between the ages of 15 and 51 years, four being successfully transplanted. Similarly, extrarenal manifestations progressed since all patients had deafness and diabetes (including three posttransplants), while half had neuromuscular, cardiac, or retinal involvement. In the adult patients with A3243G mutation and renal involvement, preexisting deafness is almost consistently found. While FSGS remains the most typical lesion, tubulointerstitial nephropathy or bilateral, enlarged cystic kidneys may also be encountered. In most cases, diabetes mellitus, macular dystrophy, hypertrophic cardiomyopathy, or neuromuscular features occur later in the course of the disease. The severity of the clinical course is heterogeneous, with end-stage renal failure being reached between the second and sixth decades. Renal transplantation may be offered to these patients, despite a high incidence of steroid-induced diabetes mellitus. E-mail: dominique.chauveau@nck.ap-hop-paris.fr

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Copyright © 2009 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673