Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Détails

ID Serval
serval:BIB_E34C546BB0BD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Pitchon E.M., Cachat F., Jacquemont S., Hinard C., Borruat F.X., Schorderet D.F., Morris M.A., Munier F.L.
ISSN
0023-2165 (Print)
ISSN-L
0023-2165
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
224
Numéro
4
Pages
340-343
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
BACKGROUND: We report a patient with a highly unusual presentation of a mitochondrial disorder.
HISTORY AND SIGNS: An 8-year old girl presented with muscular cramps as well as height and weight deceleration. Investigations revealed lactic acidosis, electrolytic imbalance and urinary loss of glucose and electrolytes secondary to proximal renal tubulopathy consistent with Fanconi syndrome (FS). Ophthalmic examination revealed asymptomatic retinitis pigmentosa (RP) with no other ocular manifestations. A mitochondriopathy was suspected and genetic analysis performed.
THERAPY AND OUTCOME: Southern blotting documented a heteroplasmic mutation of mtDNA with deletion/duplication. Three discrete mitochondrial genomes were detected: normal; deletion of 6.7 kb and a deletion/duplication consisting of 1 normal and 1 deleted genome. The relative proportions varied considerably between tissues.
CONCLUSIONS: The association of FS and RP combines features of Kearns-Sayre syndrome and Pearson marrow-pancreas syndrome, without being typical of either. This highly unusual clinical presentation emphasises the need for systemic investigation of patients with FS and further underlines the importance of mtDNA analysis in patients with unexpected associations of affected tissues.
Mots-clé
Child, DNA Mutational Analysis, DNA, Mitochondrial/genetics, Fanconi Syndrome/diagnosis, Fanconi Syndrome/genetics, Female, Gene Deletion, Gene Duplication, Genetic Predisposition to Disease/genetics, Humans, Mitochondrial Diseases/diagnosis, Mitochondrial Diseases/genetics, Retinitis Pigmentosa/diagnosis, Retinitis Pigmentosa/genetics
Pubmed
Web of science
Création de la notice
28/02/2008 10:42
Dernière modification de la notice
20/08/2019 16:07
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