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Home > Journals > Panminerva Medica > Past Issues > Panminerva Medica 2001 September;43(3) > Panminerva Medica 2001 September;43(3):211-4

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CURRENT ISSUEPANMINERVA MEDICA

A Journal on Internal Medicine

Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,6

Frequency: Quarterly

ISSN 0031-0808

Online ISSN 1827-1898

 

Panminerva Medica 2001 September;43(3):211-4

    CASE REPORTS

Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency

Berio A., Piazzi A.

From the Pedi­at­ric ­Chair, Depart­ment of Pedi­at­rics Uni­ver­sity of ­Genoa, ­Genoa, Ita­ly

We ­report a 43-­year-old ­female ­with com­plete ­Kearns-­Sayre syn­drome, ­focal defi­cien­cy of cyto­chrome-c-oxi­dase (COX) and exten­sive dele­tion of the ­mtDNA in mus­cle ­fibers, ­which ­showed pro­gres­sive insuf­fi­cien­cy of the ­renal ­tubule: ­first hyper­phos­pha­tu­ria and hyper­am­i­noa­ci­du­ria and, lat­er, ­also glu­co­su­ria (de ­Toni-­Debré-Fan­co­ni syn­drome), a syn­drome to ­date rare­ly diag­nosed in asso­ci­a­tion ­with com­plete ­Kearns-­Sayre syn­drome. In our opin­ion, ­this ­case, in ­view of the rela­tion­ships ­between ret­i­nal and kid­ney dis­or­ders, sug­gests a ­search for de ­Toni-­Debré-Fan­co­ni syn­drome in all ­patients ­with ­Kearns-­Sayre syn­drome ­also by quan­ti­ta­tive and chro­mat­o­graph­ic meth­ods for the assess­ment of ami­no­ac­ids, phos­phates and sug­ars in the ­urine.

language: English


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