A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

被引：0
|
作者：
Sebile Kılavuz
Murat Basaranoglu
Serdar Epcacan
Derya Bako
Arife Ozer
Yasemin Nuran Donmez
Emine Ipek Ceylan
Ajlan Tukun
Serdar Ceylaner
Hadi Geylani
Halise Neslihan Onenli Mungan
机构：
[1] University of Health Sciences,Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Van Training and Research Hospital
[2] University of Oxford,Department of Pharmacology
[3] Van Training and Research Hospital,Division of Neonatology, Department of Pediatrics, University of Health Sciences
[4] Van Training and Research Hospital,Division of Pediatric Cardiology Disease, Department of Pediatrics, University of Health Sciences
[5] Van Training and Research Hospital,Divisions of Pediatric Radiology, Department of Radiology, University of Health Sciences
[6] Van Training and Research Hospital,Division of Pediatric Infectious Disease, Department of Pediatrics, University of Health Sciences
[7] Van Training and Research Hospital,Department of Medical Genetics, University of Health Sciences
[8] Department of Medical Genetics,Department of Medical Genetics, Medical Faculty
[9] Duzen Laboratory,Division of Pediatric Hematology, Department of Pediatrics, University of Health Sciences
[10] Intergen Genetic Diagnosis and Research Center,Division of Pediatric Metabolism and Nutrition, Department of Pediatrics
[11] Lokman Hekim University,undefined
[12] Van Training and Research Hospital,undefined
[13] Çukurova University Faculty of Medicine,undefined
来源：
Metabolic Brain Disease | 2022年 / 37卷
关键词：
Gaucher disease; hydrops fetalis; Ichthyosis;
D O I：
暂无
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摘要：
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 T > A (p.197 K), and the second homozygous for the known GBA mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease’s early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.
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页码：1283 / 1287
页数：4
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