Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene
Abstract
1. Introduction
2. Case Report
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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CBC | Coagulation Data | ||
WBC (3000–8500)/µL | 12,500 | PT activity (80–100)% | 42.8 |
Hb (11–16) g/dL | 18.9 | PT-INR (0.9–1.1) | 1.62 |
MCV (83–100) fL | 111.4 | APTT (control) s | 66.4 (27.3) |
Reticulocyte (3–11)‰ | 53 | Fibrinogen (200–400) mg/dL | <50 |
Platelet count (150 K–360 K)/µL | 197 K | D-dimer (<1.0) µg/mL | 2.7 |
Biochemical data | |||
CRP (<0.29) mg/dL | <0.01 | Albumin (4.1–5.2) g/dL | 3.1 |
AST (13–37) U/L | 36 | BUN (7.8–18.9) mg/dL | 11.3 |
ALT (8–45) U/L | 5 | Creatinine (0.45–0.82) md/dL | 0.63 |
LDH (122–228) U/L | 427 | Na (138–146) mmol/L | 139 |
Total bilirubin (0.3–1.3) mg/dL | 1.95 | K (3.6–5.1) mmol/L | 4.1 |
Total protein (6.7–8.3) g/dL | 4.8 | Cl (99–108) mmol/L | 106 |
Family Members | Age (Years) | Fibrinogen (mg/dL) | Sequencing (FGB Bβ Gene; exon 8) | Hemorrhagic Symptoms | ||
---|---|---|---|---|---|---|
(Activity) | (Antigen) | |||||
Father | 35 | 99 | 97 | p.403Try > stop | none | |
Mother | 35 | 297 | - | - | - | |
Elder sister | 2 | 67 | NT | NT | none | |
Proband (newborn) | 0 | Day 0 | <50 | NT | p.403Try > stop | none |
Day 8 * | 61 | 67 |
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Shinozuka, J.; Okumura, N.; Nagasawa, M.; Nishikado, M.; Kadowaki, S.; Katsuda, I.; Imashuku, S. Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene. Pediatr. Rep. 2021, 13, 113-117. https://doi.org/10.3390/pediatric13010016
Shinozuka J, Okumura N, Nagasawa M, Nishikado M, Kadowaki S, Katsuda I, Imashuku S. Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene. Pediatric Reports. 2021; 13(1):113-117. https://doi.org/10.3390/pediatric13010016
Chicago/Turabian StyleShinozuka, Jun, Nobuo Okumura, Mayumi Nagasawa, Motokazu Nishikado, Sayaka Kadowaki, Itsuro Katsuda, and Shinsaku Imashuku. 2021. "Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene" Pediatric Reports 13, no. 1: 113-117. https://doi.org/10.3390/pediatric13010016
APA StyleShinozuka, J., Okumura, N., Nagasawa, M., Nishikado, M., Kadowaki, S., Katsuda, I., & Imashuku, S. (2021). Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene. Pediatric Reports, 13(1), 113-117. https://doi.org/10.3390/pediatric13010016