Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle myosin. This disease affects the patients renal system and can result in kidney failure. Epstein Syndrome was first discovered in 1972 when two families had similar symptoms to Alport syndrome. Epstein syndrome and other Alport-like disorders were seen to be caused by mutations in the MYH9 (myosin heavy chain 9)  gene, however, Epstein syndrome differs as it was more specifically linked to a mutation on the R702 codon on the MYH9 gene. Diseases with mutations on the MYH9 gene also include May–Hegglin anomaly, Sebastian syndrome and Fechtner syndrome. Signs and symptoms
Initial symptoms are often described as bleeding tendency and thrombocytopenia. Bleeding tendency may be observed in epistaxis and purpura. Other symptoms may include macrothrombocytopenia, proteinuria, nephropathy, sensorineural hearing loss, low platelet count, oral lesions and cataracts. The most common symptoms include macrothrombocytopenia, mild sensorineural hearing loss and nephritis. The symptoms and the severity of these symptoms vary between patients where most patients experience nephritis in childhood and then progress to kidney failure in adolescence. In macrothrombocytopenia platelet sizes can reach to approximately 6.6 um compared to a normal platelet size of 2.5 um where 30% platelets can reach the size of an erythrocytes. This large platelet size can be compared with MYH9 disorders where platelet size can vary between 4.5 um and the 6.6 um that is found in Epstein Syndrome with mutations on the R207 codon. Causes
Epstein Syndrome is caused by a mutation in MYH9 gene.
The immune system will attempt to kill the infected blood cells but will also kill uninfected red blood cells in the process. The number of red blood cells being destroyed becomes larger than new red blood cells being made, causing the host to become anemic and leading to many other symptoms. Once infected with anaplasmosis, the cattle will always be a carrier of the infectious disease, and calves born from carriers will also carry the disease. Signs and symptoms
Classic signs and symptoms of anaplasmosis will not occur until 3–6 weeks after infection. The most common symptoms of anaplasmosis include fever, a decreased number of white blood cells, platelets in the bloodstream, and abnormally elevated levels of liver enzymes. The erythema chronicum migrans rash may be seen with anaplasmosis as it is co-transmitted in 10% of Lyme disease cases. Anemia may be severe and result in cardiovascular changes such as an increase in heart rate. Blood in the urine may occur due to the lysis of red blood cells. General systemic signs include diarrhea, anorexia, and weight loss. Infected animals may develop a jaundiced look which then turns into paleness around the eyes, muzzle, lips, and teats of the cattle.All cattle are susceptible to infection by Anaplasma marginale, but the severity worsens with age increase. Older cattle tend to exhibit the most severe clinical symptoms; cattle aged 1–3 may also show severe symptoms but are able to recover easier. Causes
The two major species that cause anaplasmosis in ruminants include Anaplasma marginale and Anaplasma phagocytophilum.