Learning Every Day

 Chronic Kidney Disease is all over my world. You know when you have your ears open for a certain term, you seem to hear it all the time? That’s what my life has been like for the last dozen years. When I noticed a comment in a Facebook kidney disease support group about Action myoclonus–renal failure (AMRF) syndrome, I was stunned. Here was yet another possible kidney disease I’d never heard of. 

As defined by MedlinePlus, a division of the National Health Institutes (which is a division of the U.S. National Library of Medicine) at http://bit.ly/2KY6EI8,  

“Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function.” 

I was intrigued and wanted to know more. So, I did what I usually do when that happens. I poked around everywhere I could think of on the internet. My first hit was on The National Center for Biotechnology Information (NCBI), which is part of The U.S. National Library of Medicine at https://www.ncbi.nlm.nih.gov/books/NBK333437/

“Action myoclonus – renal failure (AMRF) syndrome typically comprises a continuum of two major (and ultimately fatal) manifestations: progressive myoclonic epilepsy (PME) and renal failure; however, in some instances, the kidneys are not involved. Neurologic manifestations can appear before, simultaneously, or after the renal manifestations. Disease manifestations are usually evident in the late teens or early twenties. In the rare instances in which renal manifestations precede neurologic findings, onset is usually in late childhood / early adolescence but can range to the fifth or sixth decade.” 

Uh-oh, epilepsy. One of my children has that. Luckily for her, she doesn’t have CKD. But we still need more information… or, at least, I do. For instance, how does the illness progress? 

Rare Disease InfoHub at http://bit.ly/37Qgo0h answered this particular question. 

“The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at rest and is most noticeable when trying to make small movements, such as writing. Over time, tremors can affect other parts of the body, such as the head, torso, legs, and tongue. Eventually, the tremors worsen to become myoclonic jerks, which can be triggered by voluntary movements or the intention to move (action myoclonus). These myoclonic jerks typically occur in the torso; upper and lower limbs; and face, particularly the muscles around the mouth and the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can worsen the myoclonus. Some affected individuals develop seizures, a loss of sensation and weakness in the limbs (peripheral neuropathy), or hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss). Severe seizures or myoclonus can be life-threatening.” 

But we haven’t looked at the kidneys yet. How are they involved in those who develop kidney problems from this rare disease? Let’s go back to MedlinePlus to see what we can find. Don’t be surprised that the answer is fairly general: 

“When kidney problems occur, an early sign is excess protein in the urine (proteinuria). Kidney function worsens over time, until the kidneys are no longer able to filter fluids and waste products from the body effectively (end-stage renal disease).” 

Do you remember what proteinuria is? Here’s a reminder from my first CKD book – What Is It and How Did I Get It? Early Stage Chronic Kidney Disease – in case you’ve forgotten: 

“Protein in the urine, not a normal state of being” 

Hmmm, proteinuria is exactly what it sounds like. That got me to thinking: How does the protein get into the urine in the first place? 

“Protein gets into the urine if the kidneys aren’t working properly. Normally, glomeruli, which are tiny loops of capillaries (blood vessels) in the kidneys, filter waste products and excess water from the blood. 

Glomeruli pass these substances, but not larger proteins and blood cells, into the urine. If smaller proteins sneak through the glomeruli, tubules (long, thin, hollow tubes in the kidneys) recapture those proteins and keep them in the body. 

However, if the glomeruli or tubules are damaged, if there is a problem with the reabsorption process of the proteins, or if there is an excessive protein load, the proteins will flow into the urine.” 

Thank you to a trusted site, The Cleveland Clinic at http://cle.clinic/3nTjLZI for helping us out here.

The important point here is that proteinuria, or albumin as it is often called, prevents the substances that belong in your blood stream from fully remaining there to help you: 

“Blood contains two main kinds of proteins: albumin and globulins. Blood proteins help your body produce substances it needs to function. These substances include hormones, enzymes and antibodies. 

Usually, the amount of total protein in your blood is relatively stable.” 

I’d gone back to the reliable Cleveland Clinic for this information. 

I don’t know about you as you read today’s blog, but I found writing it exhausting. Of course, that may be due to the fact that Christmas Eve and Christmas Day have just passed. I’m not quite as vigilant as I usually am about the renal diet during certain celebrations. Considering that Bear’s Lutheran and I’m Jewish, that was a lot of celebrating. I see my exhaustion as an endorsement to get right back on the kidney diet. 

Here’s hoping your Chanukah, Christmas, Boxing Day, and Kwanza were as happy as you’d hoped under the restrictions of small group gatherings, six foot distancing, and mask wearing. We stayed home alone using the phone and Facetime to be with family.  

It was… different. But more importantly, it was safe. Keep in mind that you’re already immuno-compromised simply by having CKD. If you no longer have a spleen like me (Thanks, pancreatic cancer.), you’re even more immunocompromised. Hugs are the best, but they could be deadly for us. Stay safe. 

Until next week, 

Keep living your life! 

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