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Thread: Alport syndrome

  1. #1
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    Nov 2006
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    Default Alport syndrome

    Alport syndrome is an inherited disorder (usually X-linked) involving damage to the kidney, blood in the urine, and in some families, loss of hearing. The disorder may also include eye defects.
    Alternative Names:
    Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy

    Causes, incidence, and risk factors:
    Alport syndrome is a form of hereditary nephritis. There may be nerve deafness and congenital eye abnormalities associated with Alport syndrome. The cause is a mutation in a gene for collagen. The disorder is uncommon, and most often affects males since the genetic defect is typically found on the X chromosome.

    In women, the disorder is usually mild, with minimal or no symptoms. Women can transmit the gene for the disorder to their children, even if the woman has no symptoms of the disorder. In men, the symptoms are more severe and get worse faster.

    The disorder causes chronic glomerulonephritis with destruction of the glomeruli in the kidneys. Initially, there are no symptoms. Progressive destruction of the glomeruli causes blood in the urine and decreases the effectiveness of the kidney's filtering system.

    There is progressive loss of kidney function and accumulation of fluids and wastes in the body, with eventual progression to end-stage renal disease (ESRD) at an early age. ESRD, caused by Alport syndrome, often develops between adolescence and age 40.
    Risk factors include having a family history of Alport syndrome, nephritis, end-stage renal disease in male relatives, hearing loss before age 30, bloody urine, glomerulonephritis, and similar disorders.
    Abnormal urine color
    Blood in the urine
    Loss of hearing, more common in males
    Decrease or loss of vision, more common in males
    Ankle, feet, and leg swelling
    Swelling, overall
    Swelling around the eyes
    Note: There may be no symptoms in some cases. Symptoms of chronic renal failure or heart failure may be present or may develop.
    Signs and tests:
    A doctor's exam will likely only reveal blood in the urine. Minute amounts of blood (microscopic hematuria) is present from birth in the urine of nearly all affected males.

    The blood pressure may be elevated. Examination of the eyes may show changes in the fundus (posterior inner part of eye) or lens changes, cataracts, or lens protrusion (lenticonus). An ear exam will show no structural changes.

    Urinalysis shows blood, protein, and other abnormalities.
    BUN, creatinine are elevated.
    Red blood cell count, hematocrit may decrease.
    Hematuria test is positive.
    Audiometry may show nerve deafness.
    Renal biopsy shows chronic glomerulonephritis with the changes typical of Alport syndrome.
    The goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. The most important task is strict control of high blood pressure.

    Treatment of chronic renal failure will become necessary. This may include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic renal failure progresses to end-stage renal disease, requiring dialysis or transplantation.

    Surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus is possible.

    Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments.

    Genetic counseling may be recommended because of the inherited pattern of the disorder.
    Expectations (prognosis):
    In women, there is usually a normal life span with no signs of the disease except for blood in the urine. Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy.

    In men, deafness, visual difficulties, and renal failure are likely by age 50.
    Chronic renal failure
    End-stage renal disease
    Permanent deafness
    Decrease or loss of vision

  2. #2
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    Nov 2006
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    Default Histopathology

    Here are microscopic feature, you will see..

    The tubules are normal. The glomeruli show minimal changes (mild segmental hypercellularity?)

    The basement membranes are irregular and show the characteristic lamination of the lamina densa.

  3. #3
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    Oct 2012
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    Alport syndrome is a genetic disorder characterized by glomerulonephritis, endstage kidney disease, and hearing loss. Alport syndrome can also affect the eyes

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