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[Pedigree Analysis and Diagnosis of Congenital Dysfibrinogenemia: A Case Report]
Juan Luo1, Su-Rong Duan2, Hua Wang1
1Department of Neonatology, West China Second University Hospital, Key Laboratory of Birth Defects and Related Disease of Women and Children of the Ministry of Education, Sichuan University, Chengdu 610041, China.
Insights
Congenital dysfibrinogenemia (CD) diagnosis in a pediatric patient was confirmed via genetic testing, revealing a heterozygous missense mutation. Asymptomatic patients require no immediate treatment, but prenatal diagnosis is crucial for female carriers.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Congenital dysfibrinogenemia (CD) is a rare inherited bleeding disorder.
- Accurate diagnosis and management are essential for patient outcomes.
Observation:
- A pediatric patient presented with no clinical manifestations of CD.
- Laboratory tests revealed prolonged thrombin time and reduced fibrinogen activity.
- Genetic sequencing identified a heterozygous missense mutation (c.901C>T, p.Arg301Cys) in the *FGG* gene.
Findings:
- The patient was diagnosed with CD based on clinical and genetic findings.
- The patient remained asymptomatic with stable coagulation function during a 4-month follow-up.
- Genetic testing is the primary method for confirming CD diagnosis.
Implications:
- Individualized treatment approaches are key for CD management.
- Asymptomatic CD patients may not require immediate intervention.
- Prenatal diagnosis and follow-up are vital for female carriers to prevent pregnancy-related complications.
Objective:
To improve the understanding and diagnosis and treatment of congenital dysfibrinogenemia (CD) through analyzing the clinical data of a pediatric patient and his pedigree.
Methods:
The clinical manifestations, laboratory findings and treatment of a case of CD diagnosed at West China Second University Hospital, Sichuan University and those of its pedigree members were analyzed, and genetic tracing and follow-up were conducted on the patient and its pedigree.
Results:
The child has no clinical manifestations at the time of admission. Coagulation function examination showed normal prothrombin time (PT), normal activated partial thrombin time (APTT), significantly prolonged thrombin time (TT), fibrinogen activity (Fg: C<0.5 g/L) measured with the Clauss method, and fibrinogen antigen (Fg: Ag) measured at 2.8 g/L with PT algorithm. Gene sequencing results showed that heterozygous missense mutation c.901C>T (p.Arg301Cys) in exon 8 of FGG gene. Combined with the family history, the child was diagnosed with CD. During the follow-up of 4 + months, the patient did not present bleeding, abnormal coagulation or thrombosis, and the coagulation function did not show significant changes compared with the findings obtained on admission.
Conclusion:
The diagnosis of CD is confirmed mainly based on genetic testing and the treatment is characterized by the principle of precise individualized treatment. No special treatment is needed for patients presenting no clinical manifestations. However, it is important to provide thorough prenatal diagnosis and follow-up services for female patients planning for pregnancy so as to prevent miscarriage and complications caused by postpartum coagulation dysfunction.
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