DIAGNOSIS
There are four stages of making a diagnosis of Gunther disease. First, a detailed history (including family history) and health assessment with specific care given to sun-exposed skin.
Furthermore, porphyrins and precursors must be measured biochemically in urine, feces, and blood. However, only specialized laboratories can assist with assessing the efficiency of particular enzymes in the heme production pathway, as well as DNA and mutational studies.
Also,the presence of high amounts of uroporphyrin 1 in urine, feces, and circulating red blood cells confirms the diagnosis of Gunther disease. The following are the findings:
- Coproporphyrin I and raised urinary uroporphyrin I
- Stable fluorescence of circulating RBC on vulnerability to UVA.
- Raised faecal coproporphyrin I
TREATMENT
There are many methods to cure Gunther’s illnesses, but one of the most important things that a person with this condition can do is restrict or prevent sun exposure. Some skin care products, like tropical sunscreens, have unfavorable side effects. However sunscreens including zinc oxide and titanium dioxide have been proven to guarantee safety owing to their light-reflective properties.
Other therapies that have been suggested include:
- High dosage of beta carotene, to acquire light energy.
- Low-dosage of hydroxychloroquine to boost porphyrin excretion
- Afamelanotide
- Blood transfusion
Another possible treatment is bone marrow transplant. Although long-term outcomes are not yet known, bone marrow transplantation has been effective in a few instances. This therapy is currently being tested.