271 Splenektomili hastasının incelenmesi, Splenektomi Yapılmış Hastalarda Splenomegalinin Nedeni Gaucher Hastalığı Olabilir mi?
Abstract
Gaucher
hastalığı hepatosplenomegaliye neden olabilen bir lipid depo hastalığıdır.
Zamanında tanı konamayan hastalarda ciddi splenomegaliye neden olabilmekte ve
tanı alamamış hastalar gereksiz splenektomiye gidebilmektedir. Bu amaçla
splenektomi yapılmış hastalar arasında zamanında tanısı konamamış, ancak
splenektomi sonrası Gaucher hastalığı tanısı konmuş olanlar var mı diye
araştırdık. 2010-2019 yılları arasında splenektomi yapılmış toplam 271
splenektomili hastanın klinikopatolojik ve demografik verileri geriye dönük
olarak incelendi. Splenektomi yapılma sebeplerinden en sık üç sebep; travma
(%26,5), solid organ tümörlerinin operasyonu esnasında (%22,88) ve immün
trombositopenik purpura (%12,18) nedeniyleydi. Hastaların hiçbiri Gaucher
hastalığından dolayı splenektomiye verilmemişti ve tanısal amaçlı splenektomi
yapılmış olanların hiçbirinde Gaucher hastalığı saptanmamıştı. Gaucher hastalığında splenektomi , hematolojik ve mekanik problemler varken yapılabilmesine rağmen ,
artık selektif enzim replasman tedavisi tercih edilen tedavi şeklidir.
Thanks
Çalışmamızda hastanemizdeki bütün splenektomi materyalleri incelenmiş olup literatürde çok çok az benzer çalışma olduğundan yayınlanmasının çok değerli olduğunu düşünmekteyiz, iyi çalışmalar dileriz
References
- 1. Brady, R. 0. Kanfer, J. N., Shapiro, D.: Metabolism of Glucocerebrosides, II. Evidence of an Enzymatic Deficiency in Gaucher's Disease. Biochem. Biophys. Res. Comm. 18: 221, 1965.
- 2. Brady, R. O.: Glucosyl ceramide lipidosis: Gaucher's disease. In Standbury, J. B. Wyngarten, J. B. and Frederickson, D. S., (eds.) The Metabolic Basis of Inherited Disease. New York, McGraw-Hill Co., 1978.
- 3. Elstein D, Abrahamov A, Hadas-Halpern, et al. Gaucher's disease. Lancet 2001; 358(9278): 324-7.
- 4. Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, Solorio-Meza SE, Amato D, Duran G, Giona F, Heitner R, Rosenbaum H, Giraldo P, Mehta A, Park G, Phillips M, Elstein D, Altarescu G, Szleifer M, Hashmueli S, Aviezer D. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118:5767–73.
- 5. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. J Med. 2002; 113 : 112-7.
- 6. Zimran A, Altarescu G, Philips M, Attias D, Jmoudiak M, Deeb M, Wang N, Bhirangi K, Cohn GM, Elstein D. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Jun 10;115(23):4651-6. doi: 10.1182/blood-2010-02-268649. Epub 2010 Mar 18.
- 7. Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013;88:179–84.
271 Examination of splenectomy patient, Can the Gaucher Disease be the cause of Splenomegaly in patients with splenectomy ?
Abstract
Gaucher disease is a lipid storage disease that can cause
hepatosplenomegaly. Patients who cannot be diagnosed on time can cause severe
splenomegaly and patients who are not diagnosed can undergo unnecessary
splenectomy. For this purpose, we investigated the patients who were diagnosed
with Gaucher's disease after splenectomy. Clinicopathological and demographic
data of 271 patients with splenectomy who underwent splenectomy between
2010-2019 were retrospectively analyzed. The three most common reasons for
splenectomy were; trauma (26.5%) was due to the operation of solid organ tumors
(22.88%) and immune thrombocytopenic purpura (12.18%). None of the patients
were given splenectomy due to Gaucher disease and none of them had Gaucher's
disease. None of the 271 patients who underwent splenectomy had no evidence of
Gaucher's disease. Although splenectomy, hematological and mechanical problems
are present in Gaucher's disease, selective enzyme replacement therapy is the
preferred treatment modality.
References
- 1. Brady, R. 0. Kanfer, J. N., Shapiro, D.: Metabolism of Glucocerebrosides, II. Evidence of an Enzymatic Deficiency in Gaucher's Disease. Biochem. Biophys. Res. Comm. 18: 221, 1965.
- 2. Brady, R. O.: Glucosyl ceramide lipidosis: Gaucher's disease. In Standbury, J. B. Wyngarten, J. B. and Frederickson, D. S., (eds.) The Metabolic Basis of Inherited Disease. New York, McGraw-Hill Co., 1978.
- 3. Elstein D, Abrahamov A, Hadas-Halpern, et al. Gaucher's disease. Lancet 2001; 358(9278): 324-7.
- 4. Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, Solorio-Meza SE, Amato D, Duran G, Giona F, Heitner R, Rosenbaum H, Giraldo P, Mehta A, Park G, Phillips M, Elstein D, Altarescu G, Szleifer M, Hashmueli S, Aviezer D. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118:5767–73.
- 5. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. J Med. 2002; 113 : 112-7.
- 6. Zimran A, Altarescu G, Philips M, Attias D, Jmoudiak M, Deeb M, Wang N, Bhirangi K, Cohn GM, Elstein D. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Jun 10;115(23):4651-6. doi: 10.1182/blood-2010-02-268649. Epub 2010 Mar 18.
- 7. Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013;88:179–84.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Articles |
| Authors | |
| Publication Date | December 25, 2019 |
| Published in Issue | Year 2019 Volume: 18 Issue: 3 |
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