title: Complete remission of monoclonal gammopathy with ocular and periorbital crystal storing histiocytosis and Fanconi syndrome.
abstract: A 62-year-old woman presented with crystalline keratopathy, crystal-storing histiocytosis, Fanconi syndrome, and a serum monoclonal IgG-κ and urinary κ light chain. Histology and electron microscopy studies revealed the presence of crystals within macrophages in multiple eye sites, in the kidney and in the bone marrow. The variable domain of the pathogenic κ light chain related to the Vk1-39 gene that was also involved in most previously reported cases of Fanconi syndrome. Owing to the severity of the damage to the eye and a potentially poor kidney prognosis, the patient underwent autologous stem cell transplantation. After 18 months follow-up, she is in complete hematological, ophthalmological, and renal remission.
authors: AP-HP, Hôpital Tenon, Department of Nephrology, Paris, F-75020 France.
authors: Alyette
authors: A
authors: Duquesne
authors: Anabelle
authors: A
authors: Werbrouck
authors: Bettina
authors: B
authors: Fabiani
authors: Alexandre
authors: A
authors: Denoyer
authors: Pascale
authors: P
authors: Cervera
authors: Marie Christine
authors: MC
authors: Verpont
authors: Sebastien
authors: S
authors: Bender
authors: Remi
authors: R
authors: Piedagnel
authors: Isabelle
authors: I
authors: Brocheriou
authors: Pierre
authors: P
authors: Ronco
authors: Jean Jacques
authors: JJ
authors: Boffa
authors: Pierre
authors: P
authors: Aucouturier
authors: Laurent
authors: L
authors: Garderet
mesh_terms: D000595:Amino Acid Sequence; D005198:Fanconi Syndrome / Q000473:pathology* / Q000628:therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D015614:Histiocytosis / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000652:urine*; D007668:Kidney / Q000473:pathology; D008875:Middle Aged; D009918:Orbital Neoplasms / Q000473:pathology; D010265:Paraproteinemias / Q000473:pathology* / Q000628:therapy; D016415:Sequence Alignment
chemical_list: D007145:Immunoglobulin kappa-Chains