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Saturday, December 20, 2014
Thin Basement Membrane Disease and Edema
Hi there, I am a 44 year old woman who is assumed to have this disease because of a familial history of chronic micro hematuria and a renal biopsy of my son when blood in his urine became chronic. I have within the past two years been suffering with chronic edema in my legs and elevated blood pressure. Because I have fibromyalgia, I have undergone a battery of testing ruling out heart disease, hypothyroidism, and several other diseases. These symptoms have persisted through medication changes. I found some relief with Triamterene, but soon had edema despite it. My creatinine levels have been tested and are within normal ranges. I also have been experiencing some hearing issues. I seem to have trouble comprehending what people are saying when there is a lot of background noise. I have not seen a nephrologist yet. Please advise. Thank you very much.
You do not say whether you yourself also have microhematuria, but based on your history and your family history, I would be concerned that you and your son may both have Alport's syndrome rather than thin basement membrane disease. This disease is genetically carried by females, but males who have the disease are usually more severely affected than females are. The disease, which is characterized by microhematuria, some proteinuria, and hearing loss, causes gradual loss of kidney function in males (and occasionally in females). On renal biopsy the basement membranes appear thin, but (unlike in thin basement membrane disease), they are also split and frayed.
Getting back to your case: be aware that there are several non-renal causes for edema, and you should be evaluated for these as well. For starters, your family doctor should order a urinalysis to see if you do actually have either blood or protein in your urine. If you have either, you should be referred to a nephrologist, and your son's kidney biopsy should also be carefully re-examined to see if the correct diagnosis was made. If there are other members of your family who have hematuria, they should also be carefully evaluated for Alport's. Good luck, and please write back to let me know how things turn out.
Mildred Lam, MD
Associate Professor of Medicine
School of Medicine
Case Western Reserve University