POS-485 ASSOCIATION OF AL AMYLOIDOSIS AND HEPATORENAL MULTIKYSTOSIS

Abstract

Amyloidosis is a disease defined by the deposition and extracellular accumulation of a protein substance called «amyloid». AL amyloidosis results from monoclonal immunoglobulin (Ig) light chains (LC). The change in the secondary or tertiary structure of an abnormal monoclonal LC results in instable conformation, which enhances its deposition in multiple organs. It may cause various of symptoms depending on the deposit type, location and density. This is a case about a fifty-eight year old female affected by an association of AL amyloidosis and multicyctic kidney and liver. We present a case of a fifty-eight year old female, diagnosed of AL amyloidosis in 2010. The diagnosis was based on clinical, biological and histological arguments. Immunofixation of urinary and plasma proteins objective the presence of λ type IgA with a urinary concentration 0.4g/L. The myelogram showed 5 to 6% of plasmocyte infiltration. The primary injuries were in: the myocardium (a thickened septum without alteration of the ejection fraction), the liver (hepatomegaly and anicteric cholestasis), the peripheral nervous system (paresthesia and moderate axonal sensory motor neuropathy) and the kidney. Abdominal imaging didn’t show any organ morphology abnormalities. The renal injury was initially represented by a nephrotic syndrome with normal glomerular filtration rate (eGFR) and glomerular amyloidosis with light chain lambda deposits. After immunosuppressive chemotherapy based on thalidomide, melphalan and corticosteroids then Bortézomib and hematopoietic stem cell transplantation: hepatomegaly, paresthesia and proteinuria regressed and serum and urine protein immunofixation disappeared. Seven and a half year later, the serum creatinine level raised uncovering a relapse of the AL amyloidosis that resisted to a second stem cell transplantation. Abdominal CT scan objective the appearance of multiples cysts in the liver and kidneys. The eGFR decreased and the renal replacement therapy was indicated. AL amyloidosis is a multisystem disease with a poor prognosis: the life expectancy without treatment is less than 1 year. Renal location can be the main indicator for the diagnosis and the relapse and a major prognostic factor. secondary multicystic liver and kidney in association with AL amyloidosis is unusual further morphological and molecular study is necessary.