Pfaundler's disease
Contents:
Description:
Disease Pfaundlera-Gurler - мукополисахародоз the I type, caused by deficit alpha L - идуронинизидазы.
Pfaundler etiologies:
It is inherited autosomnoretsessivno, the disease is caused by deficit of enzyme αгиалуронидазы.
Symptoms of a disease of Pfaundler:
It is shown by disturbance of development of a cartilaginous and bone tissue, low-tallness, kifizy, deformation of extremities and contractures of joints, mental retardation, peculiar features (gargoilizm), opacification of a cornea, a gepatosplenomegaliya, malformations of cardiovascular system. Death comes from respiratory infections or heart failure by the end of the 1st decade of life. The raised excretion with urine of a dermatansulfat and geparansulfat is characteristic.
Patient with a disease Pfaundlera
Treatment of a disease of Pfaundler:
Treatment unsuccessfully and children early die.
