Differences

This shows you the differences between two versions of the page.

--- content:alpha-feto_protein_serum [2020/02/16 20:41] – icna
+++ content:alpha-feto_protein_serum [2022/04/30 11:31] – administrator@icnapedia.org
@@ Line 1: / Line 1: @@
 ====== Alpha-Feto protein, serum ======
-<alert type="warning" icon="glyphicon glyphicon-hand-down">This article is a stub. Please help us improve it</alert>
 {{tag>labtests}}
 ==== Indications ====
-  * [[ataxic 'cerebral palsy']], any type of movement disorder in early childhood, [[oculomotor apraxia]](saccadic impairment)
+  * any type of movement disorder in early childhood, cerebellar ataxias, [[oculomotor apraxia]](saccadic impairment)
 ==== Notes ====
-Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l Postnatally AFP gene expression is turned down with a subsequent fall of the serum concentrations to 'adult values' of about 0.5-15 μg/l from the age of 2 years onwards. Individuals with AFP deficiency and those with hereditary persistence of AFP can however be normal. During pregnancy, AFP (in maternal serum) has long been recognized as a marker for congenital anomalies of the fetus. AFP is also a biomarker for hepatocellular carcinoma and some other malignancies.
+Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l. Postnatally [[https://ghr.nlm.nih.gov/gene/AFP|AFP gene]] expression is turned down with a subsequent fall of the serum concentrations to 'adult values' of about 0.5-15 μg/l from the age of 2 years onwards. Individuals with AFP deficiency and those with hereditary persistence of AFP can however be normal. During pregnancy, AFP (in maternal serum) has long been recognized as a marker for congenital anomalies of the fetus. AFP is also a biomarker for hepatocellular carcinoma and some other malignancies.
-Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], [[ataxia-oculomotor apraxia 2]] (AOA2), [[Deoxyguanosine Kinase Deficiency]](DGUOK) deficiency (hepatocerebral form of mtDNA depletion). Measurement of serum AFP is very useful in the diagnostic workup of [[autosomal recessive cerebellar ataxias]] (ARCAs)
+Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], [[ataxia-oculomotor apraxia 2]] (AOA2), [[Deoxyguanosine Kinase Deficiency]](DGUOK) deficiency (hepatocerebral form of mtDNA depletion). Measurement of serum AFP is very useful in the diagnostic workup of [[autosomal recessive cerebellar ataxias]] (ARCAs).
   * **Classic Ataxia Telangiectasia**
     * Infancy/childhood
-    * ↑ AFP levels 100–900 μg/l (rarely in <1% normal values are seen[(:cite:19535770 {{pubmed>long:19535770}})])
+    * ↑ AFP levels 100–900 μg/l. Rarely in <1% normal values are seen[(:cite:19535770>{{pmid>short:19535770}})]
     * in Variant A-T (ATM) AFP levels are 50–500 μg/l
     * other laboratory markers include immunoglobulins, liver transaminases, chromosomal rearrangements, increased radiosensitivity
   * **Ataxia with Oculomotor Apraxia Type 1 (AOA1)**
     * AOA1 (APTX)
-      *AFP 10-20 μg/l. ↑ AFP seen only in exceptional cases[(:cite:24120489>{{pubmed>short:24120489}})].
+      *AFP 10-20 μg/l. ↑ AFP seen only in exceptional cases[(:cite:24120489>{{pmid>short:24120489}})].
     * AOA2 (SETX)
       * Adolescence/adulthood
@@ Line 28: / Line 27: @@
       * Adolescence/adulthood
       * ↑ Serum Creatine kinase
-  * **Mitochondrial disorders (POLG and C10orf2)**
+  * **Mitochondrial disorders ([[https://ghr.nlm.nih.gov/gene/POLG|POLG]] and [[https://www.ncbi.nlm.nih.gov/gene/425626|C10orf2]])**
     * infancy/childhood/adolescence/adulthood
     * raised serum/csf lactate
-==== References ====
+CSF AFP levels in normal infants also decline with gestational age in proportion to levels of AFP in serum[(:cite:PMID10612715>{{pmid>short:10612715}})][(:cite:15802029>{{pmid>short:15802029}})].
-~~REFNOTES~~
+  * median 61 kIU/L (5th-95th centile: 2-889 kIU/L) in infants -69 to 31 days old
+  * median 1.2 kIU/L (5th-95th centile: 0.1-12.5 kIU/L) in infants 32 to 110 days old