Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up.

Autor:	El-Beshlawy A; Department of Pediatrics, Pediatric Hematology and BMT Unit., Abdel-Azim K; Department of Pediatrics, Pediatric Hematology and BMT Unit., Abdel-Salam A; Department of Pediatrics, Pediatric Hematology and BMT Unit., Gebril NA; Department of Pediatrics, Pediatric Hematology and BMT Unit., Selim YMM; Department of Pediatrics, Pediatric Hematology and BMT Unit., Said F; Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Jazyk:	angličtina
Zdroj:	Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Jul 01; Vol. 44 (5), pp. 243-248. Date of Electronic Publication: 2021 Jul 23.
DOI:	10.1097/MPH.0000000000002249
Abstrakt:	This study analyzes the general disease characteristics, impact of enzyme replacement therapy (ERT), and overall survival (OS) of 156 Egyptian patients with Gaucher disease (GD) enrolled on hormone replacement from 1998 to 2017. The mean age at diagnosis was 32.46±12.68 months. Anemia was noted at diagnosis in 50%, thrombocytopenia in 30.7%, severe splenomegaly in 58.7%, severe hepatomegaly in 11.9%, and skeletal findings were detected in 24.3% of the patients. The most prevalent GD type was type 3 (54.5%). Twenty-two of type 3 patients had no neurological manifestations at diagnosis, and 12 developed variable central nervous system manifestations during follow-up. The most common neurological features were limited eye movements, oculomotor apraxia, and squint. Of the 60 patients for whom genotypes were obtained, homozygous L444P was the most common (n=35/60, 58.3%). Treatment with ERT (imiglucerase) revealed significant improvements in blood indices, organ volumes, and growth parameters (P<0.05). Ten (11.7%) type 3 patients did not develop any neurological manifestations under ERT over 20 years. Mortality was 16%, and the 20-year OS was 73.3%. We conclude that in Egypt, type 3 is the most prevalent phenotype of GD, and homozygous L444P is the predominant GBA genotype of GD. Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an OS of 73.3%. Competing Interests: The authors declare no conflict of interest. (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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