Category Archives: Alport Syndrome

Is Alport’s Syndrome considered a type of kidney disease? If so, does much, or any, of the information on the National Kidney Foundation website applicable?

Alport syndrome is a genetic kidney disease.  It means that someone has been born with the genetics that make kidneys fail.  There are different types of Alport syndrome.  The information on our web site is accurate and you can access … Continue reading

Posted in Alport Syndrome, Ask the Doctor, Kidney-Related Health Questions

My son, age 35, has stage 3 kidney failure due to chronic kidney disease, Alports. He refuses to do anything to help himself. His doctor has very hands off approach. Will increase water help him? Will vitamins help him? Will any diet changes help? He has 5 small children and I want him to live Lon enough to see them grow up. My dad died of CKD in his early 30’s in 1955.

The most important thing to have your son do is to visit his physician twice yearly. I have similar experience with men in my practice.  They go to see the doctor if they feel bad but almost never for preventative care.  Encourage … Continue reading

Posted in Alport Syndrome, Ask the Doctor, Chronic Kidney Disease, Kidney-Related Health Questions

Do you think they are going to have a cure for alport syndrome disease? My son was diagnosed with this disease. He is only 5 years old..

Alport’s syndrome is a genetic disease and cannot be cured.  Once present, the genetic information will remain.  It may be possible to diagnose the disease during pregnancy and then prevent the disease by treatment during the pregnancy, but once present … Continue reading

Posted in Alport Syndrome, Ask the Doctor, Treatments

I’m 18 years old male diagnosed with Alport’s syndrome. Recently I’ve started going to the gym and I would like to know what are the upper limits of protein intake for building muscle. My hearing has recently gotten worse, too. What can I expect of my hearing as I get older? Does it stop or does it progressively worsen?

Alport’s syndrome is commonly associated with a hearing deficit that gets progressively worse.  You may require hearing testing and aides at some point.  As far as protein intake, you should not exceed protein intake of greater than 1.5 grams of … Continue reading

Posted in Alport Syndrome, Ask the Doctor, Chronic Kidney Disease, Diet/Nutrition

My 6 year old daughter was diagnosed last year with X-linked Alports syndrome. No family history. My husband and I are in our 30’s and have never had any issues. I understand that this is normally genetically passed but a small percentage could be a mutation that occurred only with her. Would I have to show high levels of humaturia to be a carrier of this or is that not always the case? Doctors have never brought it to my attention if I do, so was curious if I could still be a carrier.

X-linked Alports Syndrome means that females carry the disease and usually only males manifest the disease.  There are autosomal forms of Alports as well and spontaneous mutations as well.  Females may rarely have X-linked disease but usually may only manifest … Continue reading

Posted in Alport Syndrome, Ask the Doctor

I am 32 years old and I have TBMD. Recently, I have noticed that my fingers are swollen in the mornings and my kidneys hurt, however, it is infrequent. I have gone in for testing and my kidney function is normal. Is it possible that my kidneys are working normally one day and not the next? I was wondering if it would be advisable to go in for labs when I am experiencing symptoms?

TBMD is not a common abbreviation, but when I have used it, it commonly means “Thin Basement Membrane Disease” which is also called “Thin Basement Membrane Nephropathy”.  This is commonly a hereditary disease (meaning that you inherit this from your … Continue reading

Posted in Alport Syndrome, Chronic Kidney Disease, Kidney-Related Health Questions

Is it possible to have a type of progressive kidney disease if you have hypertension and microscopic hematuria, but not proteinuria? Since 2008, I’ve had episodic microscopic hematuria and episodic hypertension, along with random bouts of facial and periorbital swelling in the morning that usually resolves over the course of the day (sometimes accompanied by nausea), and other non-specific symptoms like headaches, dizziness, joint pain, and lethargy. Various well-known autoimmune diseases have been ruled out like Lupus or Sjrogren’s, along with things like Ehlers-Danlos syndrome and Fibromuscular Dysplasia. My creatinine clearance has gone down in the past 4 years, though it, as well as my eGFR, are still in the “safe” ranges. I’m a 30 year old female, 5’1, 117 lbs. I suffered a sinus infection from the common cold about 6 weeks back, and since then my blood pressure has spiked, and has not yet come down (it averages around 140/104). A nephrologist once told me he suspected Alport Syndrome or IgA nephropathy, but because my blood tests reflected very healthy kidney function, I never had a biopsy done. A cardiologist who recently ruled out Fibromuscular Dysplasia suspects I may have an adrenal tumor; I am curious about that possibility too, because I was diagnosed with Polycystic Ovarian Syndrome awhile back, and I know those symptoms are similar to adrenal gland problems. My current nephrologist wasn’t concerned about kidney disease when he referred me to investigate the potential for Fibromuscular Dysplasia as an explanation for my hypertension. I have a follow-up with him in 2 weeks, but in the meantime, I would love to hear what you think I should investigate next as a potential cause for my problems, or what tests I should consider asking for.

I cannot identify any kidney disease in the discussion that you provide.  It is true that IgA Nephropathy and Alport’s Syndrome can both cause blood in the urine (hematuria).  Alport’s syndrome is a hereditary kidney disease which means someone in … Continue reading

Posted in Alport Syndrome, IgA Nephropathy/IgA Dominant Glomerulonephritis, Kidney-Related Health Questions, Symptoms and Side Effects

I am from Indonesia. I want to ask something. Is it possible that kidney disease is kind of genetic disease? My best friend family like her sister, brother, and mom also have kidney disease and when she went to doctor here for general check up, some of the doctors said that she has kidney disease as well because of genetics from his mom, but other doctor said it is not genetic at all. We are confused right now because different hospital give different result. What should we do to prevent from this kind of disease?

Some kidney diseases are genetically passed from generation to generation.  Other kidney diseases are not.  Polycystic kidney disease (PCKD) and Alport’s syndrome are examples of kidney disease that are passed from generation to generation with genetics.  Alternatively, kidney disease such … Continue reading

Posted in Alport Syndrome, IgA Nephropathy/IgA Dominant Glomerulonephritis, Kidney Biopsy, Kidney-Related Health Questions, Polycystic Kidney Disease

I was diagnosed with Alport Syndrome when I was 16. I’m now 28 and I have no insurance. I was denied medicaid and have not seen a kidney doctor in about 3 years. My blood pressure is creeping up and I’m afraid my kidneys may be failing. Is there any way I can get help with health insurance?

The National Kidney Foundation does not offer assistance with health insurance.  You should consult with your primary care physician about your kidney function.  You also may check with the Department of Insurance in your state and see if you can … Continue reading

Posted in Alport Syndrome, Insurance & Medicare Coverage, Kidney-Related Health Questions

I have Alport Syndrome and I also have advanced osteoarthritis in my hip. What pain medications can I take that won’t harm my kidneys?

I cannot recommend pain medications without knowing your complete history and performing a physical examination.  I suggest you discuss this with your physician.  Alport’s syndrome is a hereditary kidney disease and there are several different types.  I suggest you visit … Continue reading

Posted in Alport Syndrome, Kidney-Related Health Questions, Medication and Kidney Disease, Medication and Kidney Function, Treatments