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Hereditary persistence of alpha-fetoprotein
1Division of Pediatric Hematology/Oncology, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, Ohio, USA. xli@chmca.org
Pediatric Blood & Cancer
|November 6, 2008
Summary
Hereditary persistence of alpha-fetoprotein (HPAFP) is a rare genetic condition causing elevated AFP levels. This autosomal dominant disorder is benign and can be diagnosed through family screening or genetic testing.
Area of Science:
- Genetics
- Biochemistry
Background:
- Hereditary persistence of alpha-fetoprotein (HPAFP) is a rare, benign autosomal dominant disorder.
- Elevated alpha-fetoprotein (AFP) levels typically indicate pregnancy, congenital disorders, liver disease, or malignancy.
Observation:
- A 7-year-old healthy female presented with persistently elevated AFP levels (55-88 ng/ml) over two years.
- Further investigation revealed elevated AFP in 4 of 8 relatives across three generations, suggesting autosomal dominant inheritance.
Findings:
- The family's condition aligns with the pattern of Hereditary Persistence of Alpha-fetoprotein.
- This diagnosis was supported by the observed autosomal dominant inheritance pattern.
Implications:
- HPAFP is a crucial differential diagnosis for unexplained elevated AFP in children.
- Diagnosis can be confirmed by family-wide AFP level assessment or specific AFP gene promoter mutation analysis.
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