IN LOVING MEMORY OF MY FRIEND

Death leaves a heartache nobody can heal and love leaves a memory nobody will steal.

These past few weeks have been heavy. Not only for me but for all those knew and interacted with Eric, my little best friend who passed on after battling kidney failure. He was twelve years confidently and surely. Though the misery of poverty and illness had died a thousand deaths in his spirit, the reality of Alport Syndrome lingered on in his little body like a vengeful zombie. For him and other children, let us demystify this rare and genetic disease called ALPORT SYNDROME.

If you are new to these #KidneyWednesday sections, let me welcome you. The message on health and particularly Kidney health is one I do my very best to speak of in the simplest of terms. My target audience is not the specialists but every other Kenyan without any form of medical knowledge. I hope to speak to you in a language that you can identify with. However, some terms will be highly technical and if you do not understand I really encourage you to interact with me in the comments section. Feel free to contact me on www.facebook.com/catemimi and let me know your concern. @catemimi1772 is another way to talk to me on Twitter.

I do not have all the answers. You letting me know your concerns and questions will help me to seek for the answers from the great nurses that mentor me and doctors and other professionals. In return I will package that information in the simplest terms possible. Deal? Thank you.

ALPORT SYNDROME

This is a genetic condition characterized by kidney disease, hearing loss and eye anomalies. That means the patient will present with some degree of eyesight loss, some degree of deafness and some degree of kidney failure. These symptoms occur in childhood or adolescence for most of the patients. Alport syndrome being genetic means you are born with it. Not everyone gets it though. Let me explain a bit. Alport syndrome is inherited through the X-linked recessive pattern. Wachana na hiyo kiasi…Anyone up for a biology refresher course? Ha ha

X’s AND Y’s.

Males have an X and a Y sex Chromosome while females have an X and another X as their sex Chromosomes. That tells you all Kenyan men, it is not that your wife isn’t giving you sons; it is you who has the chromosome that can result to a son and you need to research more on how to make a baby boy. I digress.

Mutations (changes) of specific genes in the X chromosome lead to manifestation of this disease. There are specific materials needed to make each and every tissue in our body. All the information is contained in genes. There are genes for every part of our body. That explains why my cheeks and those of my siblings will always be full. It is because our parents’ genes decided to carry that information and use it while manufacturing our chubby cheeks. That is why your nose is the way it is. What I don’t know is whether genes are to also blame for my never growing hair.

It has been ten years now and every girl and their cat have long hair. Mine arrived came to the land of menopause and fell in love with the place. Oh the pains of kinky curls!

To filter urine, kidneys are comprised of millions of small structures called nephrons. Within the nephrons, there is a sieve-like membrane that allows waste products to pass through and come out as urine. We already said what urine contains. Right? Eti left? Hehehe you are funny. This membrane is interspersed with a fine network capillaries and together we call it the glomerulus. That is singular. Plural is glomeruli. I would go further and discuss the glomerular basement membrane but we are not here to get medical. We are here to at least get the basics.

Think of a regular kitchen sieve and a handle. The sieve is your glomerulus and the handle is your tube which will allow urine to pass through. Fair enough.

There is a specific protein that is needed in the formation of this glomeruli. This is the type IV collagen protein. Mutations in the genes specific in making type IV collagen cause abnormalities in the glomeruli and subsequent inability of kidneys to properly filter the blood. Type IV collagen is also needed in the making of Organ of Corti in the inner ear. This is an epithelium (membrane or lining) involved in the transformation of sound into nerve impulses for the brain to interpret.

Therefore, abnormalities in type IV collagen will cause hearing loss. Okay medics, it will cause sensorineural hearing loss. Sijawasahau hehehe.

Type IV collagen helps maintain shape of the lens and cells of the retina of the eye. That tells you changes in how this protein looks like will mean changes in the eye lens and retina. The retina is where we find the cells of sight and this will mean different degrees of blindness.

I am now biting my nails in the corner of my room eating last night’s disappointments hoping to my ancestors that you #TeamPhoenix do understand the three relationships. That is, this is not witchcraft like I saw some of you allude to in Eric’s case or a curse from the gods. That it is a genetic condition and the village witches had nothing to do with it. Sorry you alumni of Hogwarts school of witchcraft and wizardry, this isn’t on you.

INHERITANCE

The genes needed to make type IV collagen are within the X sex chromosome. It follows then that women will most likely pass the disease to their offspring while themselves are not affected.

Hold that thought please.

If a man has the mutations in these particular genes in the X chromosome. He too will pass it along and most likely he will already be exhibiting the signs and symptoms we have discussed. This is because, again, women have two X sex chromosomes while men have an X and a Y as their sex chromosomes.

 Dear God, show me a sign that kinaeleweka…

In males (XY) who have one altered copy of COL4A5 (the gene in question) in each cell, it is enough to cause kidney failure and other severe symptoms. In females (XX) who have a mutation in only one copy of the COL4A5 gene, it usually only results in hematuria.

However in some cases, it is inherited in an autosomal recessive pattern. Simply put, parents of this individual have one copy each of the mutated gene (carriers). In this case males and females are affected alike.

DIAGNOSIS

I would be very happy to write text book procedures. However, that would reduce this blog to a site of plagiarism with intelligent insults. See, in the Kenyan set up, such diseases get diagnosed by accident. It means that the parents have time and again presented the child to the hospital with either blood in urine, hearing loss or blindness. These are usually picked by the teachers who notice change of behavior with a child more intimately than parents do.

Sometimes the child will start speaking loudly and saying too many ‘repeat what you said.’

That is just but a clue to what could be happening. Thinking about the above, so many reasons can be attributed to them. It goes to show you that there is no walk in the bright sunny park as far as diagnosis of Alport Syndrome goes. It may take a few months if not years for the doctors to know what they are dealing with. By this time the kidneys will be damaged beyond repair.

A kidney biopsy will indeed detect the scarring of the glomeruli. Specifically it allows for testing of type IV collagen which will be absent in people with Alport syndrome. Genetic testing will confirm the diagnosis and help in determining the inheritance pattern so as to help other family members.

TREATMENT OR IS IT?

You will not treat Alport Syndrome. I wish we could. What management involves is monitoring and deterring progression of the disease as well as supporting the individual in different life skills. Patients will need hearing aids and in the case of blindness, ophthalmic support.

With regards to the inevitable end stage renal failure, dialysis and Kidney transplantation is the way to go.

PREVENTION

It really would be grand if we had some sort of genetic counseling centers in Kenya. That would allow us to seek information regarding our different health conditions. That would inform our decisions on what to do or not do. This is a tentative area pregnant with misinformation so I will shamelessly let it hang in the air like unclaimed Valentine’s roses.

Alport syndrome when detected early will be slowed down in its progression. Management of high blood pressure will be key. There are a wide range of drugs safe in the management of high blood pressure. There is, specifically, a cluster of medications concerned with preventing proteins from leaking through the glomeruli into the urine. These are the ones that the nephrologist will go for.

OUTRO

Funds were available through numerous fund drives for Eric to undergo kidney transplant but he passed on before that could be actualized.

Thank you all of you that empathized with his story and to all the parents, guardians and families and friends dealing with this horrendous illness, from my heart is a warmth of understanding, love and unconditional support.

Till we meet again Eric, Rest in peace.

9 thoughts on “IN LOVING MEMORY OF MY FRIEND

  1. Wow. This is absolutely amazing. Glomerulus…wow. I have learnt so much about the collagen type IV. My question is, since the condition has no cure, does it mean therefore that Eric’s kidney transplant would not have prevented anything? Or would it have slowed the effects before they actually catch up? As for a cure…if a gene mutation is what causes the recessive disorder… Are we saying that we cannot reorder the genetic patterns and composition to correct the anomaly? I ask coz this is just an absorbing read and makes me so curious on so many levels on the possibilities of genetic engineering advances towards sorting such anomalies.

    Great read. Outstanding 👍🏿👍🏿👍🏿👍🏿👍🏿

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    1. Wow what a great observation you’ve made. His transplant would have sorted only one aspect of the problem which is most severe; renal failure. With regards to ear and eye problems, it is a slow downhill progression which can be managed anyway.

      Yes the answer lies in genetic manipulation which is still a dream for many.

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      1. Thanks for this. Wow. That means if we could replace the eye and do a ear transplant…we could cure the problem. Does it mean therefore then that that protein potency could be eliminated by transplants if those were possible? Or does it mean that the protein is still inherently somewhere in the genetic make up and would cause the same issues? Or does it mean it would now be dormant and only transferable to the genealogies afterwards?

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      2. Victor, the underlying problem with the ear is the Organ of Corti. I am yet to see how practical that is to be transplanted. All that can be done is hearing aids. Stats show that in about 10% of those that receive kidney transplant they go ahead to live essentially normal lives. Well, still battling with eye and ear problems.

        No we can’t eliminate it because it is within genetic composition. If we had a way of making the genes responsible behave ( they are three I only tackled one) then perhaps it could be eliminated.

        What I’m saying is, just like Down Syndrome which is genetic as well, Alport syndrome can only be managed.

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      3. I want you to understand that the ear ,the eye and the kidneys are NOT the problem. They are victims. We can’t replace them just because they have been targeted. We can only let the specialists handle each organ depending on the clinical manifestations .

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