Serum alpha1-fetoprotein in cystic fibrosis
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Serum alpha1-fetoprotein levels do not reliably detect cystic fibrosis carriers or homozygotes. This study found most cystic fibrosis patients and normal children had typical alpha1-fetoprotein ranges, indicating its ineffectiveness for genetic screening.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Cystic Fibrosis (CF) is a genetic disorder.
- Accurate methods for identifying CF carriers and affected individuals are crucial.
- Alpha1-fetoprotein (AFP) has been investigated as a potential biomarker.
Purpose of the Study:
- To evaluate the utility of serum alpha1-fetoprotein concentrations in identifying cystic fibrosis (CF) homozygotes and heterozygote carriers.
- To compare AFP levels in children with CF, healthy children, and healthy adults.
Main Methods:
- Radioimmunoassay was used to measure serum alpha1-fetoprotein (AFP) concentrations.
- Measurements were taken in 38 children with CF, 19 healthy children, and 62 healthy adults.
Main Results:
- 97.5% of cystic fibrosis patients and 95% of normal children had AFP values within the normal adult range (1-9 ng/ml).
- The observed AFP levels did not show significant differences that would distinguish between CF patients, healthy children, and healthy adults.
Conclusions:
- Serum alpha1-fetoprotein measurement is not a suitable method for detecting cystic fibrosis gene homozygotes.
- AFP analysis is ineffective for identifying cystic fibrosis heterozygote carriers.
Abstract:
In 38 children and adolescents with cystic fibrosis, in 19 normal children and 62 healthy adults the serum alpha1-fetoprotein concentrations were measured by radioimmunoassay. In cystic fibrosis patients 97.5% and in normal children 95% of the alpha1-fetoprotein values were within the normal range for healthy adults (1--9 ng/ml). Critical judgement of the reported findings in literature and our own results demonstrate that the investigation of alpha1-fetoprotein in the serum cannot serve for detecting homozygotes of cystic fibrosis genes or heterozygote carriers.