Complete remission of monoclonal gammopathy with ocular and periorbital crystal storing histiocytosis and Fanconi syndrome

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• 作者：Alyette Duquesne ; MD^a ; ¹ ; Anabelle Werbrouck ; MD^b ; ¹ ; Bettina Fabiani ; MD^b ; Alexandre Denoyer ; MD^c ; Pascale Cervera ; MD^b ; Marie Christine Verpont^d ; Sebastien Bender ; PhD^e ; Remi Piedagnel ; PhD^a ; Isabelle Brocheriou ; MD ; PhD^d ; Pierre Ronco ; MD ; PhD^a ; Jean Jacques Boffa ; MD ; PhD^a ; Pierre Aucouturier ; PhD^f ; ¹ ; Laurent Garderet ; MD ; PhD^a ; ^g ; ¹ ; ^{Laurent.garderet@sat.aphp.fr}
• 关键词：Monoclonal kappa light chains ; Crystal-storing histiocytosis ; Crystalline keratopathy ; Fanconi syndrome
• 刊名：Human Pathology
• 出版年：2013
• 出版时间：May, 2013
• 年：2013
• 卷：44
• 期：5
• 页码：927-933
• 全文大小：2251 K

文摘

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Summary

A 62-year-old woman presented with crystalline keratopathy, crystal-storing histiocytosis, Fanconi syndrome, and a serum monoclonal IgG-¦Ê and urinary ¦Ê 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 ¦Ê 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.