2012年8月5日星期日
What is autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney is called PKHD1 of PKD autosomal recessive mutations in the gene caused. The human body may carry PKD gene, but scientists have not found. The human body's genes exist in pairs, if two parents per capita carrying the abnormal gene, and transmitted to their children, even if the parents were not ill, the child may be sick. If both parents are carrying the abnormal gene, their children suffering from autosomal recessive polycystic kidney disease probability of 25%. If only one parent carries the abnormal gene, then the child will not be sick, but there may be genetic abnormal gene to their children.
Autosomal recessive polycystic kidney disease in patients born before will show symptoms, it is also known as infantile polycystic kidney disease. Under normal circumstances, the birth suffering from recessive polycystic kidney infant will develop renal failure as well as not adult, but there are exceptions. The severity of the disease vary, the most serious, sick infants may be within a few hours after birth due to breathing difficulties or respiratory failure died.
Some patients with autosomal recessive polycystic kidney until childhood or even adulthood not develop the disease. Often hidden polycystic kidney patients will be the formation of liver scarring and increase with age become increasingly serious.
Autosomal recessive polycystic kidney in children with high blood pressure, urinary tract infection and urinary frequency. The disease also affects the liver and spleen, resulting in low blood cell counts, varicose veins and hemorrhoids. Because the kidney plays a vital role in the early physical development, so often hidden in polycystic kidney in children than normal children emaciated. Recent studies have shown that growth retardation may be the first symptoms of autosomal recessive polycystic kidney disease.