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Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene
Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering th...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930968/ https://www.ncbi.nlm.nih.gov/pubmed/33804389 http://dx.doi.org/10.3390/pediatric13010016 |
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author | Shinozuka, Jun Okumura, Nobuo Nagasawa, Mayumi Nishikado, Motokazu Kadowaki, Sayaka Katsuda, Itsuro Imashuku, Shinsaku |
author_facet | Shinozuka, Jun Okumura, Nobuo Nagasawa, Mayumi Nishikado, Motokazu Kadowaki, Sayaka Katsuda, Itsuro Imashuku, Shinsaku |
author_sort | Shinozuka, Jun |
collection | PubMed |
description | Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering the possibility of afibrinogenemia, which may cause bleeding, fresh frozen plasma (FFP) was initiated twice a week to maintain her plasma fibrinogen level at 50–100 mg/dL. Thereafter, we found hypofibrinogenemia in her father and elder sister and plasma fibrinogen levels, determined by clot formation and immunological methods, showed similarly reduced values in both the neonate (proband) and her father. Based on a presumed diagnosis of congenital hypofibrinogenemia, sequencing of the fibrinogen genes was performed, revealing a novel heterozygous mutation of FGB (Genbank NG008833); a p.403Try>Stop. The neonate was treated with repeat FFP infusions until two months of age, when treatment was stopped because she remained asymptomatic. |
format | Online Article Text |
id | pubmed-7930968 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-79309682021-03-05 Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene Shinozuka, Jun Okumura, Nobuo Nagasawa, Mayumi Nishikado, Motokazu Kadowaki, Sayaka Katsuda, Itsuro Imashuku, Shinsaku Pediatr Rep Case Report Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering the possibility of afibrinogenemia, which may cause bleeding, fresh frozen plasma (FFP) was initiated twice a week to maintain her plasma fibrinogen level at 50–100 mg/dL. Thereafter, we found hypofibrinogenemia in her father and elder sister and plasma fibrinogen levels, determined by clot formation and immunological methods, showed similarly reduced values in both the neonate (proband) and her father. Based on a presumed diagnosis of congenital hypofibrinogenemia, sequencing of the fibrinogen genes was performed, revealing a novel heterozygous mutation of FGB (Genbank NG008833); a p.403Try>Stop. The neonate was treated with repeat FFP infusions until two months of age, when treatment was stopped because she remained asymptomatic. MDPI 2021-03-01 /pmc/articles/PMC7930968/ /pubmed/33804389 http://dx.doi.org/10.3390/pediatric13010016 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Shinozuka, Jun Okumura, Nobuo Nagasawa, Mayumi Nishikado, Motokazu Kadowaki, Sayaka Katsuda, Itsuro Imashuku, Shinsaku Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title | Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title_full | Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title_fullStr | Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title_full_unstemmed | Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title_short | Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene |
title_sort | congenital hypofibrinogenemia in a neonate with a novel mutation in the fgb gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930968/ https://www.ncbi.nlm.nih.gov/pubmed/33804389 http://dx.doi.org/10.3390/pediatric13010016 |
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