| Autor: |
Clemence, Delteil, Nicolas, Macagno, Romain, Appay, Marc, Uzan, Noemie, Jourde-Chiche, Laurent, Daniel |
| Jazyk: |
francouzština |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Annales de pathologie. 39(2) |
| ISSN: |
0242-6498 |
| Popis: |
Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Lipid profile usually shows variable cholesterol levels but very low HDL levels. Here we describe the case of a 33-year-old man presenting a nephrotic syndrome associated with moderate renal insufficiency for which the pathological analysis allowed to guide towards the diagnosis of LCAT deficiency. Laboratory and genetic data confirmed this diagnosis. Familial history and lipid profile abnormalities are important in the identification of this disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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