What is Hereditary Megaloblastic Anemia for Lesch-Nayan Syndrome?
Lesch-Nyana syndrome is a rare inherited disorder.
Hereditary megaloblastic anemia in Rogers syndrome. For the first time in 1969, Rogers and co-authors described a complex hereditary syndrome in an 11-year-old girl — sugar diabetes, deafness, megaloblastic anemia. This anemia did not respond to therapy with either vitamin B12 or folic acid.
In the same year, other scientists described a similar disease in a 12-year-old girl who had diabetes, deafness and megaloblastic anemia from the age of 3 years. The hemoglobin content was reduced to 60 g / l. After ineffectual therapy with vitamin B12, folic acid, pyridoxine, nicotinamide, pantothenate, uridine, thiamine was used in a dose of 20 mg / day. At the same time, they managed to achieve an increase in the content of reticulocytes and normalization of erythrocyte and leukocyte indices. Cancel thiamine led to a drop in hemoglobin content. Re-appointment of thiamine was again accompanied by a good therapeutic effect. There were no signs of hypovitaminosis B6 in either the first or the second patient.
Causes of Hereditary Megaloblastic Anemia in Lesch-Nayan Syndrome
Inheritance is recessive, linked to the X chromosome.
Symptoms of Hereditary Megaloblastic Anemia in Lesch-Nayan Syndrome
The disease causes severe clinical manifestations, including impaired mental development, signs of severe damage to the spinal cord, gout and megaloblastic anemia.