Kidney Failure in Cystinuria Patients

Kidney failure in cystinurics, doesn't only occur when kidney stones stop proper kidney function, or if a post-op blood clot or other complication is present. It is the nature of cystinuria, that one day our kidneys will fail, and possibly even several times over many years before they finally konk out for good. I've experienced this sort of acute kidney failure three times - once due to a 7mm stone, once due to a post-op blood clot, and once just for the fun of it. I'd like to focus on the one that came out of nowhere.

First, please remember I'm no kidney doc. What I know comes from personal experience and years of reading up and consultations. Please go to your doctor or call 911 if you think you're experiencing symptoms related to acute or even chronic kidney failure.

Within the cozy cystinuria community, it's well known that we all have a disposition to acute and chronic kidney failure. Most general practice doctors have never heard of cystinuria, and some don't know how to properly test for kidney failure in patients presenting with kidney stones. When you need to be seen by someone other than a kidney specialist, you might be given some grief, but you need to take control of the conversation, and say exactly why you feel you're going into possible kidney failure, and gently remind them that kidney function blood tests are more important than yet another CT Scan.

First, here are the symptoms of acute kidney failure taken from the Mayo Clinic:

- Decreased urine output, although occasionally urine output remains normal
- Fluid retention, causing swelling in your legs, ankles or feet
- Drowsiness
- Shortness of breath
- Fatigue
- Confusion
- Nausea
- Seizures or coma in severe cases
- Chest pain or pressure

Now, here are the symptoms of regular ol' chronic kidney failure from the National Institutes of Health:

- General ill feeling and fatigue
- Generalized itching and dry skin
- Headaches
- Weight loss without trying to lose weight
- Appetite loss
- Nausea

Symptoms when kidney function has worsened:

- Abnormally dark or light skin
- Bone pain
- Brain and nervous system symptoms such has drowsiness and confusion, problems concentrating or thinking, numbness in the hands, feet, or other areas, and muscle twitching or cramps.
- Breath odor (*that can extend to entire body odor - that kidney rot, as I call it)
- Bleeding, or blood in the stool
- Excessive thirst
- Frequent hiccups
- Low level of sexual interest and impotence
- Menstrual periods stop
- Sleep problems, such as insomnia, restless leg syndrome, and obstructive sleep apnea
- Swelling of the feet and hands
- Vomiting, typically in the morning (huh - had no idea, but when it does down, I promise vomiting can occur anytime.)

Okay, now that the basic symptoms of kidney failure are out of the way, here's how kidney failure relates to those of us with cystinuria. It is said that kidney failure is rare in cystinurics, but is also said that because of chronic kidney stones and the stress they put on the nephrons themselves, kidney failure does happen, and that we are definitely predisposed to it. One website simply stated, "A person cystinuria may develop kidney failure, which can shorten the person's lifespan."Another website mentioned, "Depending on the level, number of stones, physical stress, and trauma of one's Cystinuria, there is a small possibility that progressive kidney failure will result." Perhaps I can't find solid statistics due to the rarity of the disease itself.

Here is one JAMA article about a patient who's cystinuria led him to End Stage Renal Failure at the ripe old age of 28, emphatically proving, it does happen.

So the important take away from this, is that we can and do experience renal failure at one time or another, but seemingly not all cystinurics do experience random acts of acute kidney failure. We know our bodies better than anyone, and I doubt that any of us (post-diagnosis) were proven wrong when it came to the awareness of stones or kidney pain. The same must go for acute kidney failure. Don't believe the websites when they say it doesn't happen, or it's extremely rare. We are rare! There are only 20,000 of us in the United States and up until recently, few statistics specifically about cystinura and kidney failure have been published.