| Autor: |
O, Lidove, N, Belmatoug, R, Froissart, C, Lavigne, I, Durieu, K, Mazodier, C, Serratrice, C, Douillard, C, Goizet, P, Cathebras, G, Besson, Z, Amoura, A, Tazi, M, Gatfossé, S, Rivière, T, Sené, M T, Vanier, J-M, Ziza |
| Jazyk: |
francouzština |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
La Revue de medecine interne. 38(5) |
| ISSN: |
1768-3122 |
| Popis: |
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B).Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed.Twenty-eight patients (19 males, 9 females) were analyzed. Diagnosis was made before the age of 10 years in 16 cases. Main symptoms at diagnosis were spleen/liver enlargement and interstitial lung disease. Biological abnormalities included: thrombocytopenia (platelet count150 000/mmASMD in adulthood (NP-B) associates spleen/liver enlargement and interstitial lung disease. Early diagnosis and appropriate management are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures such as splenectomy. To date, only symptomatic therapy is available. A phase 2/3 therapeutic trial with IV infusion of recombinant enzyme is on-going. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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