Alport's Syndrome

[adrienurse, LPN]

Is anyone familiar with this syndrome also known as Dickinson's hereditary deafness nephropathy. It's rare but genetic and I've found out that 2 of my first cousins have it (one who has had a kidney transplant and the other on peritoneal dialysis and on the transplant list). Some other relatives have some of the earlier signs. I have persistent hematura, recurrent uti's and have been treated for hypertension for several years. I also have hearing senstivity so you can understand that I want to know as much as I can about the illness and the gene my father might carry.

[attyrn]

try seeking professional help to confirm if you inherited this syndrome. from your message, you might have inherited it. it is genetically transmitted and mostly males inherit it. hematuria is but one of the signs of the disease which affects the x chromosome.

[attyrn]

got this from the MAYO clinic website:

Alport syndrome includes a group of disorders that affect the cell membranes of the kidneys and often the eyes and ears. This rare, inherited disorder damages the internal structures of the kidney (glomeruli) and impairs their function (glomerulonephritis), which may lead to kidney failure.

Alport syndrome primarily affects males because the genetic defect is on the X chromosome. In females with the gene defect, the disorder is mild — causing few, if any, signs or symptoms. Women can transmit the abnormal gene to their children, even if they have no signs or symptoms themselves. Male children have a 50 percent chance of inheriting the defect from a mother who has the abnormal gene. In males, the signs and symptoms are more severe and progress at a faster rate.

Signs and symptoms of Alport syndrome include:

• Blood in the urine
  
• Protein in the urine
  
• High blood pressure
  
• Kidney failure
  
• Hearing loss

A doctor may confirm a diagnosis of Alport syndrome by:

• Urine tests
  
• Blood tests
  
• Removal of kidney tissue (biopsy) for examination under a microscope
  
• A skin biopsy

There's no cure for Alport syndrome. Treatment is directed at controlling blood pressure. In severe cases, kidney dialysis or transplantation may be needed.

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[adrienurse, LPN]

thanks. There is some talk of having everyone undergo genetic testing but I believe it's difficult to do because the only place in North America where this is done is at the University of Utah. We also have a very large family.

[traumaRUs, MSN, APRN]

Since you are getting married soon - I would definitely look into it prior to having children.