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

Female Gaucher Disease / complications Homozygote Humans Hydrops Fetalis / etiology Mutation / genetics Pregnancy
GBA Gaucher disease Ichthyosis hydrops fetalis

Journal

Metabolic brain disease
ISSN: 1573-7365
Titre abrégé: Metab Brain Dis
Pays: United States
ID NLM: 8610370

Informations de publication

Date de publication:
04 2022
Historique:
received: 17 11 2021
accepted: 22 02 2022
pubmed: 8 3 2022
medline: 29 4 2022
entrez: 7 3 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1007/s11011-022-00942-5 PMID: 35254599
pubmed: 35254599
doi: 10.1007/s11011-022-00942-5
pii: 10.1007/s11011-022-00942-5
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1283-1287

Informations de copyright

© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Références

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Auteurs

Sebile Kılavuz (S)

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Van Training and Research Hospital, University of Health Sciences, Van, Turkey. dr.skilavuz@gmail.com.
Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK. dr.skilavuz@gmail.com.
ORCID: 0000-0002-7527-2620

Murat Basaranoglu (M)

Division of Neonatology, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Serdar Epcacan (S)

Division of Pediatric Cardiology Disease, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Derya Bako (D)

Divisions of Pediatric Radiology, Department of Radiology, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Arife Ozer (A)

Division of Pediatric Infectious Disease, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Yasemin Nuran Donmez (YN)

Division of Pediatric Cardiology Disease, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Emine Ipek Ceylan (EI)

Department of Medical Genetics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Ajlan Tukun (A)

Department of Medical Genetics, Duzen Laboratory, Ankara, Turkey.

Serdar Ceylaner (S)

Intergen Genetic Diagnosis and Research Center, Ankara, Turkey.
Department of Medical Genetics, Medical Faculty, Lokman Hekim University, Ankara, Turkey.

Hadi Geylani (H)

Division of Pediatric Hematology, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey.

Halise Neslihan Onenli Mungan (HNO)

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.
ORCID: 0000-0001-7862-3038

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Gaucher › A rare cause of hydrops fetalis in two Gaucher...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › A rare cause of hydrops fetalis in two Gaucher...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A rare cause of hydrops fetalis in two Gaucher...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Oedème › Anasarque foetoplacentaire › A rare cause of hydrops fetalis in two Gaucher...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A rare cause of hydrops fetalis in two Gaucher...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › A rare cause of hydrops fetalis in two Gaucher...