Alport Syndrome

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Alport Syndrome Jun 27th 2013, 11:28 Alport syndrome is a genetic condition that is characterized by kidney disease, eye abnormalities and hearing loss. Alport Syndrome symptoms are much more common in males than in females. The condition was first identified by Dr. Cecil A. Alport in the year 1927 in a British family. Alport syndrome occurs in 1 out of 50,000 newborns. Alport syndrome is a rare disorder passed from unaffected females (carriers) to their male children. Females who have an X-chromosome with the affected gene may show some symptoms but will not have the full blown disease. The syndrome is caused by mutations in the genes COL4A3, COL4A4, and COL4A5, each of which play a role in making a component of the protein 'type IV collagen' which in turn plays an important role in the glomeruli of the kidneys. The concerned genes are located on the X–chromosomes; in most people, the condition is inherited in an X-linked dominant pattern while in some it is inherited in an X-linked recessive pattern. Affected patients suffer from progressive loss of kidney function, along with signs of hematuria (blood in urine) and proteinuria (high levels of urine protein). As the disease progresses, it terminates in end-stage renal disease (ESRD). What are the Symptoms of Alport Syndrome? Kidney problems worsen to end-stage renal disease (ESRD) early on in the life of Alport syndrome individuals. Glomeruli are small tufts in the kidney that contain blood vessels; they collect wastes from the blood and create urine. Mutations in the above-said genes result in abnormalities in the glomeruli, which results in blood and proteins being passed into the urine. Eventually scarring and kidney failure occurs in these individuals. Type IV collagen is also an important component of inner ear, especially the organ of Corti. This small organ plays the role of transforming sound waves into nerve impulses that can be understood by the brain. Those with Alport syndrome experience sensorineural hearing loss which manifests during late childhood or early adolescence. The same collagen is vital for maintaining lens shape in the eye and the color of the retina too. An abnormality in the collagen results in out-of-shape lenses (anterior lenticonus) and abnormal coloration of certain light-sensitive tissue in the retina. Common symptoms include- Swelling in the ankle, feet, leg, eyes Blood in the urine Abnormal urine color Decreased vision / complete loss of vision (mostly in males) Flank pain Loss of hearing (mostly in males) Overall swelling of the body The condition worsens to end-stage renal disease (ESRD) early on in the affected person's life -between adolescence and 40 years. In some cases, there are no symptoms. In women who are carriers of the disease, the symptoms are milder while in men, they are much graver. How can we Diagnose Alport Syndrome? Specific gene analysis has been recommended in a patient who has met at least two clinical diagnostic criteria for Alport syndrome. The following are the criteria for clinically diagnosing Alport syndrome- Family history of nephritis Persistent hematuria (blood in the urine) Gradual bilateral sensorineural hearing loss  Presence of glomerular abnormalities Presence of ocular lesions Diffuse leiomyomatosis of esophagus / female genitalia or both (Leiomyomata are benign smooth muscle tumors) COL4A5 analysis has been recommended in a patient who has met at least two clinical diagnostic criteria. COL4A3 and COL4A4 analysis should be carried out in case COL4A5 mutation is not detected. Some of the common tests include- Eye examination for screening changes in the eye Checking for BP Audiometry for hearing- related problems Blood tests-Complete blood count (CBC) and serum creatinine Urinalysis Kidney biopsy DNA analysis to detect gene mutation How can Alport Syndrome be Treated? Controlling the disease is the primary goal of treatment of Alport syndrome. There is no permanent cure. Treating the symptoms and controlling the disease are the primary goals of treatment of Alport syndrome. It is vital to strictly monitor and control blood pressure in these patients. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers can effectively do this job and slow the progress of the disease. Chronic kidney disease (CKD) is rampant in those with Alport syndrome and this needs to be controlled or treated with limited intake of fluids, changes in diet and other methods.  When CKD eventually progresses to end-stage kidney disease, dialysis or kidney transplant may be required. Eye problems may require surgery, while hearing problems need to be addressed with learning new skills such as lip reading and sign language, and by wearing hear aids. Protection devices may also be worn to protect the ear in noisy environment. Genetic counseling may be provided to the patients on how the disease is transmitted to the offspring. Women who are carriers usually have a normal lifespan while men develop complications by the time they are fifty years old.

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