Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease
| العنوان: | Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease |
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| المؤلفون: | Michal Becker-Cohen, Sebastian Oppermann, David Arkadir, Tama Dinur, Shoshana Revel-Vilk, Laura Demuth, Ari Zimran, Claudia Cozma, Arndt Rolfs, Marina Hovakimyan |
| المصدر: | Journal of Clinical Medicine; Volume 8; Issue 10; Pages: 1662 Journal of Clinical Medicine Journal of Clinical Medicine, Vol 8, Iss 10, p 1662 (2019) |
| بيانات النشر: | Multidisciplinary Digital Publishing Institute, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Bone disease, Long term follow up, untreated, Hepatosplenomegaly, lcsh:Medicine, Disease, Gaucher disease, Asymptomatic, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, adults, Substrate reduction therapy, 030304 developmental biology, 0303 health sciences, Newborn screening, business.industry, lcsh:R, Type 1 Gaucher Disease, General Medicine, medicine.disease, type 1, 030220 oncology & carcinogenesis, medicine.symptom, business |
| الوصف: | The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5−58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56−408) × 103/mL and 13.1 (7.6−16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1−711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2077-0383 |
| DOI: | 10.3390/jcm8101662 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c41f61996618af8fd7ae45de479da3 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....65c41f61996618af8fd7ae45de479da3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20770383 |
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| DOI: | 10.3390/jcm8101662 |