Research shows that HMBS mutations are estimated to occur in approximately 1 in 1700 caucasians (there is not enough data in other populations) while AIP symptoms are shown to be present in approximately 1 in 200,000 caucasians. It can be inferred that the penetrance of AIP is approximately 1% of the HMBS heterozygous community, concluding that there are other factors needed to induce AIP symptoms. Variants of AIP
There have been more than 400 mutations in the heme biosynthesis identified to cause AIP. In the erythroid variant, mutations in the exon 1 sequence of the housekeeping gene, splicing of exon 1, and splicing of exon 3 causes an alternative form of AIP wherein there is decreased activity of the liver enzyme but erythroid cells have regular activity. HMBS has two isoforms, housekeeping and erythroid. Additionally, there is also the non-erythroid variant of AIP in which there are mutations in exons 3-15 and there is decreased activity in both isozymes. Most individuals with AIP have mutations in exons 3–15. Loss of function mutations of HMBS cause decreased activity of the enzymes normally present. Diagnosis
The initial diagnosis of acute porphyria is confirmed by urinalysis, including the common method, the Watson-Schwartz test. Elevated urine porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A positive test should be indicated with an increase of five times normal, not just a slight increase which can occur with dehydration.
Finasteride/tadalafil, sold under the brand name Entadfi, is a fixed-dose combination medication used for the treatment of benign prostatic hyperplasia (BPH). It contains finasteride and tadalafil. It is taken by mouth.It was approved for medical use in the United States in December 2021. Medical uses
Finasteride/tadalafil is indicated to treat benign prostatic hyperplasia (BPH) in men. References
External links
"Finasteride". Drug Information Portal. U.S. National Library of Medicine. "Tadalafil". Drug Information Portal. U.S. National Library of Medicine.