title: Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy.
abstract: The association of Fanconi syndrome (FS) and chronic kidney disease (CKD) has been rarely described during the course of paroxysmal nocturnal hemoglobinuria (PNH). We report 2 patients with PNH and CKD associated with proximal tubule dysfunction, which manifested as full-blown FS in one case. In both patients, abnormal iron load within the kidneys was demonstrated by magnetic resonance imaging, which correlated with diffuse and numerous hemosiderin inclusions within proximal tubular cells. After 12 months, eculizumab treatment resulted in significant decrease in the kidney iron load in both cases. Glomerular filtration rate improved in one case and was stabilized in the other, in whom pretreatment kidney biopsy had shown severe extensive interstitial fibrosis. However, symptoms of proximal tubular dysfunction persisted in both patients. These data suggest that hemosiderin deposition in proximal tubules is probably an important mechanism involved in the development of FS, an under recognized and early manifestation of CKD in PNH. Prolonged treatment with eculizumab may improve long-term renal function in PNH patients with CKD.
authors.affiliation: Department of Nephrology, CHU Poitiers, Université Poitiers, Hôpital Jean Bernard, Poitiers, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Moumas
authors.forename: Frank
authors.initials: F
authors.lastname: Bridoux
authors.forename: Fannie
authors.initials: F
authors.lastname: Leroy
authors.forename: Simohamed
authors.initials: S
authors.lastname: Belmouaz
authors.forename: Edouard
authors.initials: E
authors.lastname: Randriamalala
authors.forename: Estelle
authors.initials: E
authors.lastname: Desport
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dreyfus
authors.forename: Sébastien
authors.initials: S
authors.lastname: Delbès
authors.forename: Nathalie
authors.initials: N
authors.lastname: Quellard
authors.forename: Guy
authors.initials: G
authors.lastname: Touchard
mesh_terms: D000368:Aged; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D002908:Chronic Disease; D005198:Fanconi Syndrome / Q000209:etiology*; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D008297:Male; D008875:Middle Aged
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab