George's Minimal Change Disease - Nephrotic Syndrome
This is my son George. He was diagnosed with "Nephrotic Syndrome" (NS) shortly after he turned two years old in November of 1998. He has been called a "classic case" as he developed the NS at age two. He is also Hispanic and the disease is more common in that ethnic group. Currently he is receiving care at the Pediatric Nephrology Clinic at The University of Michigan in Ann Arbor.
In October of 1998, shortly before his birthday on the 10th, he developed a cold and became swollen in the face. The swelling would go down by the end of the day. As a nurse I knew that a cold needs to "run its course" and that antibiotics are useless against them. I gave him some Benedryl thinking perhaps it may be an allergic reaction to something.
He was back to his old self again in no time and went "trick or treating" that year. Near his brother's birthday in November he developed another cold and eventually the same swelling in his face each morning that improved by the end of the day. I remembered a picture from my old Pediatric Nursing textbook that showed a picture of a child with an exacerbation of NS. I thought, "No, this can't happen to him". But during the next few days, he became more and more swollen to the point where his skin was tight and he was not urinating and lacked an apetite. I knew something was wrong so I found that textbook and looked up NS.
His regular pediatrician took one look at him and agreed with me, that she suspected NS. She sent us to U of M immediately and that is where we met the Pediatric Nephrology team and he was officially diagnosed with NS, and optimistically with Minimal Change Disease (MCD) which is a benign form of NS that most children will outgrow at puberty.
Minimal change disease is a pediatric form of
NS. In adults, nephrotic syndrome is
caused by glomerulonephritis (inflammation of the glomeruli) which is often a result
of renal (kidney) failure. In children with the MCD form of NS, the cause is ideopathic, as no changes in the glomeruli are seen on biopsy.
When the glomeruli are inflammed they allow proteins
to be filtered from the body into the urine. The kidneys are like a sieve, what is broken down beyond use filters out through the holes while the mesh keeps the necessary things, such as protein, in the
system. For some unknown reason, the filters mysteriously enlarge so slightly, that the difference in change can only be seen through an electron
microscope at a magnification around 20,000x. When this minimal change happens, protein begins to spill out of the system with the urine and that's when
problems start. This
results in low protein (albumin) in the blood and
hence severe generalized edema (you may have heard the
term "third spacing" used for this). With George
since there are no glomeruli changes we don't know why
he spills protein in his urine, it is theorized to be
an autoimmune disorder. This in theory are why the
steroids, cyclosporins, chemotherapy, etc help; by
being immunosuppressive.
| Classic signs and symptoms are: | | Swelling of the face that improves by the end of the day (due to gravity) | Lack of or poor apetite (anorexia) | Lack of or minimal urination (anuria) | Generalized swelling (edema) of the body | Low albumin (a protein) levels in the blood | High protein levels in the urine |
George had all of those symptoms and he was found to have a dangerously low level of albumin. Initially he was hospitalized for three days and was given albumin and Solumedrol (prednisolone) IV. He was also given a diuretic called Lasix to help him urinate and expell the excess fluid is his body.
The albumin is given to replace the albumin that is lost in the blood due to the kidneys misfiltering it out into the urine. Recall from eight grade science that "water goes from the area of least concentration to the area of highest concentration". Albumin is a heavy protein that helps to keep or "pull" the water into the bloodstream where it belongs. Protein is also needed to keep the cell walls together, so when it leaks out, the cell walls begin to break down. The fluid that is contained in the cells begins to
seep out and into the soft tissue and does things like put pressure on internal organs. When it is excreted in the urine in persons with NS, making the level low in the blood, the water in the bloodstream tends to travel outward into the skin where there is now a greater concentration, hence the body and facial swelling.
The prednisolone is a corticosteroid that helps to cause suppression of the immune system. Since MCD is thought to be autoimmune (immune system targeting self) decreasing the immune system should reverse the NS. This is why transplant patients take steroids, to prevent the body from "rejecting" the organ.
George was sent home on oral prednisolone (Prelone syrup) since he responded well to it. He went into remission and we were told to begin weaning him off of it. Corticosteroids can NEVER be abrubtly stopped, the body can have severe withdrawl symptoms. So we decrease his dose gradually. He also takes a prophylactic dose of antibiotics so he will not get infections while on the steriods. One aspirin a day when on the full dose of steriods to help prevent bloodclots which are a potential complication of NS.
Unfortunately, George has since never been fully taken off of the steroids. He is what is known as a "frequent relapser". Most kids with MCD will be weaned off of the steroids and be in remission for 3-6 months before relapsing. With George, every time he gets a cold or any other kind of infection (ear, etc) his NS is exacerbated (he relapses).
We tried a 6 week course of cytoxin, which is a chemotherapeutic agent to hopefully put him into a 6 month remission in the summer of 1999. The treatment failed. His urine was protein free all summer but when he caught his first cold after stopping the cytoxin he immediately relapsed.
Since George is "steroid dependent" his doctors suggested a kidney biopsy which he underwent at U of M in January 2000. The results of his biopsy showed that George does not
have any of those glomeruli changes (inflammation) nor any tissue scarring. So it has been concluded that he infact has "Minimal
Change Disease" which is a benign form of the disease
that most kids outgrow of at puberty and generally do
not progress into renal (kidney) failure. Our biggest concerns
are the side effects of the steroids he is currently
taking for the condition, which include high blood sugar, high blood pressure, obesity, agressive behavior, growth retardation and cushingoid appearance (moonface).
He has become dependent on the steroids but still
responds well to them so we are going to stay on that
course of treatment for now. His blood pressure and blood sugar have remained stable. On the growth chart he is in the 40th percentile for his age group. A once quiet and calm child, he is now very active and aggressive, very excitable. He has the typical round "moonface" (chubby cheeks) of a steroid taker. He is also very hairy which is another side effect.
My son is 3 and a half years old and has
already been in the hospital 3 times with the IV's and
everything. I was never in the hospital until I gave
birth to his older brother! It is not fair for a kid
to be sick like that (as you know) although it has
made him into a very "mature" three year old.
What causes NS in children?
With the exception of things like Alport's syndrome (a hereditory form of NS), we don't know. Up to 85% of all cases are minimal change nephrotic
syndrome and it disappears when the child hits puberty. Doctors refer to this as spontaneous remission and the disease disappears as quickly as it appeared.
For some unknown reason, boys tend to be diagnosed more often than girls. It is usually diagnosed between 1 1/2 to 6 years of age. That doesn't mean that
older or younger children aren't diagnosed, just that is usually the window in which most kids are diagnosed.
What do the kidneys do?
The kidneys serve an important function in the body. They remove waste from the system in the form of urine, balance the fluids in the body, regulate blood
pressure, synthesize the vitamins that help to control growth and control red blood cell production among other things. They process about 200 quarts of
fluid over the course of 24 hours and void about 2 quarts of that from the body.
They're actually quite amazing considering they're only about the size of your fist!
Reference::http://ntcorp.com/nephrotic/NS.html
Update 12/31/00George developed high blood pressure this past September and has been placed on Captopril. He is tolerating it fine and his blood pressure has lowered, but now he has another medicine to take twice a day!
He has had two ear infections this winter and several colds so I am having trouble weaning him from his steroids. We've started him on liquid vitamins called SeaSilver that has trace minerals, aloe vera, and silver nitrate. It is rather expensive but I am hoping it will help his immune system. He has been on and off different antibiotics for his infections.
My husband and I have stopped allowing him to use "sippy cups". He would lie down with the Playtex cups to drink his juice almost like drinking a bottle. We're suspecting that may have contributed to his ear infections.
It's tough. He is now four and in preschool, we want him to have a normal life. He catches his colds there or from his brother who is in first grade. Sometimes I have to chase him around the house to take his medicine, he plays games and is very controlling about it (certain spoons, cups, etc). He doesn't understand any of this.
Update 07/13/01
New Research: Meet the Potocyte
NephCure Foundation is a foundation based in Ann Arbor that is researching a cell in the kidney called the potocyte. George is a participant in a similar study (maybe the same one) at U of M.
Update 2003
George is managing to not swell up as badly as before for the past year. Even with 4+ proteinuria and albumin levels as low as 1.4, he has managed to stay hardly edemetous.
Unfortunately, with the addition of Cellcept (mycophenylate) this past year he still continues to be steroid dependent. I can wean him down to about 5cc of 15mg/5cc Prelone every other day. If he catches a cold then it's right back up to maximum dose.
George is still short for his age but still not the shortest in his class!! He is in first grade, plays soccer and baseball, and is managing to live a normal life (except for all of the pills he has to take).
I still have him on the Seasilver, and have added quercetin which is a natural histamine "balancer". Knock on wood, this last relapse, I did not have to increase the Prelone dose to max and he is staying between trace and 1+ protenuria without edema!
His blood presure has remained stable and there are no signs of any other adverse aeffects of the NS or steroid use. George, has had some episodes of malnutrition in the past year which we manage with the addition of Carnation Instant Breakfast and Pediasure to help boost the protein intake in his diet when he is spilling and has a poor appetite during a relapse.
Update 2004
George was started on "Sandimmune" a cyclosporin this year in May. The doctors decided to discontinue the Cellcept last year since it didn't appear to be helping much. He has been totally off of steroids (Prelone) since June. He has not spilled any protein since starting the Sandimmune and appears to be in full remission. George is also off the Zantac as well, but still takes the low dose of Vasotec (2.5mg).
George's doctor and nurse practitioners at U of M were beginning to become concerned about his weight gain and his lack of growth height-wise. George already appears less cushingoid, his cheeks are less round and he has grown an inch so far this summer. We haven't noticed any side-effects from the cyclosporin, no major blood pressure changes. Appetite is good, and George has lost the fluid and most of the fat in his belly and is fitting into normal clothes. (I had to buy size 14 boys pants and cut over a foot off and then hem them! George really wears a size 8-10!)
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