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Alport syndrome is a rare inherited disorder that damages the tiny blood vessels in the kidneys. It can also cause hearing loss and eye problems. • Alternative Names • Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy • Causes • Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. • The disorder is rare. There are three genetic types: • X-linked Alport syndrome (XLAS) -- This is the most common type. The disease is more severe in males than in females. • Autosomal recessive Alport syndrome (ARAS) -- Males and females have equally severe disease. • Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females have equally severe disease. • With all types of Alport syndrome, the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged. The glomeruli filter blood to make urine and remove waste products from the blood. • At first, there are no symptoms. Over time, as the glomeruli are more and more damaged, kidney function is lost and waste products and fluids build up in the body. The condition can progress to end-stage renal disease (ESRD) at an early age, between adolescence and age 40. At this point, dialysis or a kidney transplant is needed. • Symptoms • The main symptom of Alport syndrome is blood in the urine that is often not visible and only detected under a microscope. This occurs from a young age. As the disease progresses, other symptoms may appear. • KIDNEYS • Other symptoms of kidney problems include: • Abnormal urine color • Blood in the urine that is visible during a cold or flu or exercise • Flank pain • High blood pressure • Swelling throughout the body (edema) • Fatigue • Poor appetite • Excessive thirst • EARS • Over time, Alport syndrome also leads to hearing loss in both ears. By the early teens, it is common in males with XLAS, though in females, hearing loss is not as common and happens when they're adults. With ARAS, boys and girls have hearing loss during childhood. With ADAS, it occurs later in life. • Hearing loss usually occurs before kidney failure. • EYES • Alport syndrome also leads to eye problems in those with XLAS and ARAS, including: • Abnormal shape of the lens (anterior lenticonus), which can lead to a slow decline in vision as well as cataracts. • Corneal erosion in which there is damage to the outer layer of the covering of the eyeball, leading to pain, itching, redness of the eye, or blurred vision. • Abnormal coloring of the retina, a condition called dot-and-fleck retinopathy. It doesn't cause vision problems, but can help diagnose Alport syndrome. • Macular hole in which there is thinning or a break in the macula. The macula is a part of the retina that makes central vision sharper and more detailed. A macular hole causes blurred or distorted central vision. • Eye problems are uncommon in people with ADAS. • Exams and Tests • The health care provider will examine you and ask about your symptoms. • The following tests may be done: • BUN and serum creatinine • Complete blood count • Renal biopsy • Urinalysis • If your provider suspects you have Alport syndrome, you will also likely have vision and hearing tests. • Treatment • The goals of treatment include monitoring and controlling the disease and treating the symptoms. • Your provider may recommend any of the following: • A diet that limits salt, fluids, and potassium • Medicines to control high blood pressure • Kidney disease is managed by: • Taking medicines to slow kidney damage • A diet that limits salt, fluids, and protein • Hearing loss can be managed with hearing aids. Eye problems are treated as needed. For example, an abnormal lens due to lenticonus or cataracts can be replaced. • Genetic counseling may be recommended because the disorder is inherited. • #health #diseases • @FAMD4SH
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