Now What? 

Wow! It’s the last month of 2019 already. You may have noticed there was no blog post last week. That’s because I was unexpectedly hospitalized with just my iPhone on me and poor internet at the hospital not once, but twice. But I’m back in the office now.

Today is Dana’s turn to have his request filled. Although, I do wish the reader who graciously agreed to wait until after I’d recovered from major surgery to have her questions answered would contact me again. With so many people at my computer while I was hospitalized, her questions have been, er, mislaid.

Okay, Dana, back to you. Uh-oh, your messages have seemed to disappear, too. Well, I guess that’s the last time I allow anyone to use my computer. I do apologize. Please resend your questions.

Mind you all, I am not a doctor. I’m just a writer who’s taught research writing and been a Chronic Kidney Disease, stage 3 patient for 11 years. Anything I suggest – or that anyone else suggests, for that matter – should be checked with your nephrologist before you act on it

Hmmm, we have to hold off on both questions. Now what? I know. Let’s look at a rare kidney disease. Are you game? Well, will you look at that? I’ve already blogged about some of them on this list by the American Kidney Fund at https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/rare-diseases/  Use the topic drop down on the right side of the blog if you’re seeking info on one of them or let me know if you’d like information about one I haven’t yet written about. Use comment on the blog so it doesn’t get lost.

Minimal change disease?  Whatever could that be? And why is it labeled in plain, laymen English rather than medical terms that we’d have to look up? Let’s find out.

According to the National Kidney Fund at https://www.kidney.org/atoz/content/minimal-change-disease,

“Many diseases can affect your kidney function by attacking and damaging the glomeruli, the tiny filtering units inside your kidney where blood is cleaned. The conditions that affect your glomeruli are called glomerular diseases. One of these conditions is minimal change disease (MCD). Minimal change disease is a disorder where there is damage to your glomeruli. The disease gets its name because the damage cannot be seen under a regular microscope. It can only be seen under a very powerful microscope called an electron microscope. Minimal change disease is the most common cause of nephrotic syndrome in children. It is also seen in adults with nephrotic syndrome, but is less common. Those with MCD experience the signs and symptoms of nephrotic syndrome much quicker than they would with other glomerular diseases.”

This is so logical it makes me wonder why the rest of medicine isn’t. I was referring to the part about the electron microscope. Let’s slow down a bit and take a look at “nephrotic syndrome” to ensure we fully understand what this disease is about.

The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/nephrotic-syndrome/symptoms-causes/syc-20375608 tells us,

“Nephrotic syndrome is a kidney disorder that causes your body to excrete too much protein in your urine.

Nephrotic syndrome is usually caused by damage to the clusters of small blood vessels in your kidneys that filter waste and excess water from your blood. Nephrotic syndrome causes swelling (edema), particularly in your feet and ankles, and increases the risk of other health problems.”

Got it? Okay, then back to minimal change disease. How, in heaven’s name, do you get it? Hmmm, after surfing the internet for a while, it’s become clear the medical community doesn’t yet know the cause of minimal change disease, although the following may be involved:

“The cause is unknown, but the disease may occur after or be related to:

  • Allergic reactions
  • Use of NSAIDs
  • Tumors
  • Vaccinations (flu and pneumococcal, though rare)
  • Viral infections”

Thank you MedlinePlus (part of the U.S. National Library of Medicine, which is part of the National Institutes of Health) at https://medlineplus.gov/ency/article/000496.htm.

All right then, maybe we could move on to the symptoms. This is clearly one of those times I wish I could understand medicalese. The best I could figure out is that, while kidney function remains normal, minimal change disease leads you right into nephrotic syndrome. That is a conglomeration of symptoms, as explained by Merck Manual Consumer Version at https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/kidney-filtering-disorders/nephrotic-syndrome?query=Minimal%20Change%20Disease#v761896:

“Early symptoms include

  • Loss of appetite
  • A general feeling of illness (malaise)
  • Puffy eyelids and tissue swelling (edema) due to excess sodium and water retention
  • Abdominal pain
  • Frothy urine

The abdomen may be swollen because of a large accumulation of fluid in the abdominal cavity (ascites). Shortness of breath may develop because fluid accumulates in the space surrounding the lungs (pleural effusion). Other symptoms may include swelling of the labia in women and, in men, the scrotum. Most often, the fluid that causes tissue swelling is affected by gravity and therefore moves around. During the night, fluid accumulates in the upper parts of the body, such as the eyelids. During the day, when the person is sitting or standing, fluid accumulates in the lower parts of the body, such as the ankles. Swelling may hide the muscle wasting that is progressing at the same time.

In children, blood pressure is generally low, and blood pressure may fall when the child stands up (orthostatic or postural hypotension). Shock occasionally develops. Adults may have low, normal, or high blood pressure.

Urine production may decrease, and kidney failure (loss of most kidney function) may develop if the leakage of fluid from blood vessels into tissues depletes the liquid component of blood and the blood supply to the kidneys is diminished. Occasionally, kidney failure with low urine output occurs suddenly.

Nutritional deficiencies may result because nutrients are excreted in the urine. In children, growth may be stunted. Calcium may be lost from bones, and people may have a vitamin D deficiency, leading to osteoporosis. The hair and nails may become brittle, and some hair may fall out. Horizontal white lines may develop in fingernail beds for unknown reasons.

The membrane that lines the abdominal cavity and abdominal organs (peritoneum) may become inflamed and infected. Opportunistic infections—infections caused by normally harmless bacteria—are common. The higher likelihood of infection is thought to occur because the antibodies that normally combat infections are excreted in the urine or not produced in normal amounts. The tendency for blood clotting (thrombosis) increases, particularly inside the main veins draining blood from the kidneys. Less commonly, the blood may not clot when clotting is needed, generally leading to excessive bleeding. High blood pressure accompanied by complications affecting the heart and brain is most likely to occur in people who have diabetes or systemic lupus erythematosus.”

So, while the name of the disease is written in plain language, it’s clear this is a more complicated rare kidney disease than that would suggest.

Until next week,

Keep living your life!

Yet Another One

Chronic Kidney Disease awareness advocates have a tendency to hang out together online. One who has become a good buddy and happens to live in Hawaii (Now you see why we’re online buddies.), and I were going back and forth about how it’s important to be what I call a lifelong learner. To put it another way, someone who investigates that about which they don’t know. The timing was good.

A reader soon started communicating with me about tuberous sclerosis complex (TS). I was polite. I was patient. And I had no clue what this had to do with kidney disease, although the word “tuberous” caught my eye. By the way, Dictionary.com at https://www.dictionary.com defines tuberous as “characterized by the presence of rounded or wartlike prominences or tubers.” So I did what any curious, intelligent lifelong learner would do. I asked… and the response was an eye opener.

What she, the reader, sent me led to my going back to my old friend The National Institutes of Health’s U.S. National Library of Medicine. This definition is from their website at https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex,

“Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems.”

So, that’s the connection to kidney disease: tumor growth on the kidney… and, according to this definition, it’s genetic. It wasn’t mentioned there, but I remember thinking that it’s also a rare disease.

I thought I’d hop over to National Organization for Rare Diseases at https://rarediseases.org/rare-diseases/tuberous-sclerosis/ for more information, just in case it really was a rare disease. It’s a good thing I did because as it turned out, this is not only a genetic disease, but one that can also be caused by mutation:

“In many instances, an alteration causing tuberous sclerosis occurs as a new (sporadic or de novo) mutation, which means that the gene alteration has occurred at the time of the formation of the egg or sperm for that child only, and no other family member will be affected. The disorder is not inherited from or ‘carried’ by a healthy parent. However, such alterations can be passed on through dominant inheritance (where a trait is transmitted from either an affected mother or father to their child).”

I needed to know more so I poked around looking for the symptoms. My first stop was the ever reliable Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969 :

“Although the signs and symptoms are unique for each person with , they can include:

  • Skin abnormalities. Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
  • Seizures. Growths in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
  • Cognitive disabilities. Tuberous sclerosis can be associated with developmental delays and sometimes intellectual disability or learning disabilities. Mental health disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
  • Behavioral problems. Common behavioral problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
  • Kidney problems. Most people with tuberous sclerosis develop noncancerous growths on their kidneys, and they may develop more growths as they age.
  • Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as the child gets older.
  • Lung problems. Growths that develop in the lungs may cause coughing or shortness of breath, especially with physical activity or exercise. These benign lung tumors occur more often in women than in men.
  • Eye abnormalities. Growths can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These noncancerous growths don’t always interfere with vision.”

Nope, not enough yet. Even though growths on the kidneys were mentioned, I wanted to know about diagnosing this rare disease. This time I turned to Healthline (Yes, the same Healthline that twice deemed this blog one of the top six kidney blogs.) at https://www.healthline.com/health/tuberous-sclerosis#diagnosis . This is what I found there:

“TS is diagnosed by genetic testing or a series of tests that includes:

an MRI of the brain

a CT scan of the head

an electrocardiogram

an echocardiogram

a kidney ultrasound

an eye exam

looking at your skin under an Wood’s lamp, which emits ultraviolet light”

But what about a cure or treatment? Is there any? According to MedicineNet at https://www.medicinenet.com/tuberous_sclerosis_complex_tsc/article.htm#how_is_tsc_treated ,

“There is no cure for TSC, although treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures. Vigabatrin is a particularly useful medication in TSC, and has been approved by the U.S. Food and Drug Administration (FDA) for treatment of infantile spasms in TSC, although it has significant side effects. The FDA has approved the drug everolimus (Afinitor®) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Specific medications may be prescribed for behavior problems. Intervention programs including special schooling and occupational therapy may benefit individuals with special needs and developmental issues. Surgery may be needed in case of complications connected to tubers, SEN or SEGA, as well as in risk of hemorrhage from kidney tumors. Respiratory insufficiency due to LAM can be treated with supplemental oxygen therapy or lung transplantation if severe.”

I find myself flabbergasted that, yet again, there is so much to learn for this particular lifelong learner. Wait, you should also know there is an association for those with the disease. It’s the Tuberous Sclerosis Alliance. The following link is for the page that explains how this disease affects the kidneys: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/kidneys/. Should you be newly diagnosed with this disease or know someone who has been, that’s where you find easily understood information and support. You can also click on to their home page if you want to know how it affects other parts of the body.

That is plenty to absorb for one day.

Until next week,

Keep living your life!