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#alports syndrome
soumyafwr · 8 months
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https://www.shtfsocial.com/blogs/138036/Alport-Syndrome-Market-Overview-Competitive-Analysis-and-Forecast-2031
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Alport Syndrome Market Overview, Competitive Analysis and Forecast 2031
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surkuted · 11 months
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dratefahmed1 · 1 year
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Charcot's Neurologic Triad/Medical Triads /Medical Mnemonics /#shorts/Medical students/Frcs/Usmle
#Charcot’s_Neurologic_Triad #shorts #triad,#medical_triad,#pediatric,#medicine,#mrcpch,#mbbs,#plab,#amc,#usmle,#doctor,#mnemonic #shortsvideo #shortsfeed #shortsyoutube #shortsbeta #shortsviral #shorts_ #shortsindia #shorts #no1doctor #Medical_students #Dratef #triad,#medical_triad,#pediatric,#medicine,#mrcpch,#mbbs,#plab,#amc,#usmle,#doctor,#mnemonic #Medical_Triads #Tetrads #Pentads #No1doctor…
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dontcallthislovee · 2 years
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Update
So just to give a little update on what’s been going on with me since I was last on since it’s been like two years. I have to laugh at that since I’ve had tumblr for over a decade and have done this multiple time and yet every time I come crawling back to it begging forgiveness for my absence. Anywho, for my update:
Two years ago, I was diagnosed with Hashimoto’s Thyroiditis. This means my thyroid is underactive and explains why no matter what I’ve done, it’s hard as mother fucking shit for me to lose weight. Now, I got this diagnosis because I had been having GI problems and dry skin issues, but the Endocrinologist wanted me to see a GI doctor to rule out a GI diagnosis. The GI doctor had me do an endoscope and a colonoscopy, which resulted in him removing one polyp (which greatly concerns me, but he was non-chalant about it) and diagnosing me with IBD. Now, upon further research, I realize this means I have either Crohn’s Disease or Ulcerative Colitis, which I was not told which specific diagnosis I have. Then I went back to the endocrinologist and he did an ultrasound of my thyroid and checked my thyroid levels and then yeah, diagnosed me. Now, unfortunately my thyroid levels are constantly fluctuating, but mostly stay within normal limits. And when I say fluctuating, I mean they went like from too much to too little in a matter of weeks, but still within normal limits. I mean, that’s gotta give my body whiplash or something, right?
So then last year in June, my grandpa died. I used to be very, very close with him, but had recently fallen out with my grandma and by extension my grandpa. My grandma didn’t say more than two words to me at his memorial service. Though she did let me come to it as it was at their house on their property, even though she had previously threatened to call the police if I ever stepped foot on their property again. And after what she had said to me, I stood firm in wanting an apology from her before I gave her one in return as she had been so nasty and cruel and belittling of me. And I bit my tongue until I just couldn’t anymore, so I feel like I don’t have much to be sorry for, though I do feel absolutely awful about it. And then just a couple week ago, my grandpa’s dog, Stormy, died. I still don’t think I’ve completely processed losing my grandpa yet. There has just been so much that has happened to me in such a little time that it’s hard to be able to process anything before something else just as terrible if not more happens and knocks me off my feet again before I’m even back on them. 
Lastly, about two months ago, I was diagnosed with Stage 1 Kidney Disease. The specific disease is called Alport Syndrome, at least I’m pretty sure that’s what it is from my research into it. Last year, my dad had a kidney transplant after having been on dialysis for a few years. He had no symptoms except for blood in his urine since he had been 19. He was almost 50 by the time it caused more symptoms and even then it was only hypertension and fatigue. They discovered his kidney function was below 10% and got him on dialysis and got him on the transplant list. Now, a signifying symptom of this syndrome is blood in the urine. Sometimes it’s the only symptom for a long time. Now apparently my grandmother, my dad’s mother, also has had blood in her urine for a long time. And I have had blood in my urine since I was 6. So the reason I say I’m pretty sure it’s Alport Syndrome is because there’s a chance that’s it’s just some unnamed hereditary nephritis, however, Alport Syndrome is passed through 3 different ways of inheritance: X-linked chromosomal, autosomal dominant, or autosomal recessive. Now since my grandma, my dad, and I all have had blood in our urine for years and years, this leads me to believe it is X-linked Alport Syndrome. Now the reason that my grandma hasn’t had any kidney problems herself is because women have two X chromosomes, so with Alport Syndrome, they don’t often present with kidney problems. However, there are also other factors involved in Alport Syndrome. It is not just a kidney disease. Oh no, no, no. I had to be so lucky as to get something that affects certain parts of your cartilage. It affects your kidneys because this certain cartilage helps filter toxins out of your blood. It also affects your eyes and ears. It can cause early hearing loss in mid to higher ranges at much earlier ages and affects the lens in the eyes, which is very important in helping us see. It can also cause cataracts. My grandmother, for as long as I can remember, has had trouble hearing in mid to higher ranges and woke up one day with cataracts so bad she thought she was blind. She only just hit her 70s in the last couple years, so it’s not like she’s really old or anything. And I’ve been visiting her since I was 4 and the hearing thing has /always/ been there and got so much worse until she had no choice but to cave and get hearing aids. Now, my father brushed my diagnosis off when I told him that it’s likely that he has the same syndrome considering his kidney problems and he said something along the lines of, “Well, my doctors haven’t mentioned anything like that so I don’t think you know what you’re talking about.” And when I mentioned how it would explain my grandma’s hearing and vision problems, he just said something about how she’s old and that’s why she had those problems. But my grandma is otherwise very healthy as she exercises daily. She has Graves Disease (thyroid disease) and a heart arrythmia, but they’re being treated and she’s been fine otherwise. I told her about my diagnosis so she was aware for her own health and she took it in and thanked me. She said she’d let her doctors know so they can look into it for her. I’m going through genetic counseling to confirm the diagnosis and find out how I inherited my Alport Syndrome if that is indeed what I have. Though the geneticists I spoke to before I got my DNA test agreed with me that I most likely have X-linked Alport Syndrome, but did say that there’s a small chance that it’s inherited another way or not Alport Syndrome at all. So we will find out soon enough. 
My housing situation has been homeless for the majority of the time. While I was collecting pandemic unemployment, I was staying in a motel, but that was short lived once it got cut off. I tried returning to work and it was a complete shit show. I had like 3 panic attacks at the beginning of my second shift and then they told me that I quit. About a month later, I applied for disability with social security. I just had a hearing this last Tuesday and will be getting my decision soon. My lawyer thinks it went well, so here’s hoping that I get approved. Maybe once I get myself into my own place, I’ll be able to get myself together and eventually go back to working. 
Oh! I almost forgot that last month I did Neuropsychological Evalution and was diagnosed with PTSD, ADHD, and Major Depressive Disorder. This came as no surprise to me as my childhood and working as an EMT, and I had already been previously diagnosed with Major Depressive Disorder. The results for this came less than a week before my hearing with social security, so maybe this will also help me get my claim approved. My lawyer said that I meet almost every criteria for mutiple mental illnesses when you only need to meet 2 or 3 for each ad she said she got the answers she was looking for during the hearing with the Vocational Expert, the person who says how many jobs would be available for someone like me, so these are all good things. I’m trying to keep my hopes up, but not get them up so high that I’ll be crushed if I’m denied. 
Anyway, I have to get to bed because I have to see the Neurologist in the morning to get my results from my MRI, EEG, and upper and lower body EMGs. My memory has gotten substantially worse and I’ve even had trouble with word recall, sometimes with the simplest of words. So here’s hoping it’s just stress or nothing? That’d better than a brain tumor or a brain aneurysm, which also run in my family. Smh.
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morbidology · 2 years
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Born on the 16th of March, 1979, 5-year-old Regina Mae Armstrong called Orlando home. Regina’s mother, Donna, was in charge of the cafeteria of Mid-Florida Tech while her father, Bob, worked for Culligan Water Conditioning of Orlando. She had a 9-year-old sister, Christina, who had been dealt an unfortunate hand in life when she was diagnosed Alport’s Syndrome, a hereditary nephritis that cost her most of her hearing. In fact, in 1990 Christina would receive a kidney transplant, part paid for by Sheelah Ryan, a $55 million lottery winner. 
It was a pleasant summer’s morning on the 18th of June, 1985. Bob was dropping Regina and Christina at their babysitter’s apartment on Semoran Boulevard in southeast Orlando. As Regina hugged and kissed her father goodbye, she told him “Daddy, I love you. I’ll see you tonight,” and jumped out of the truck.
It was the last time Bob would ever see his youngest daughter alive....
Shortly after finishing their lunch, Regina, Christina and their babysitter’s young son decided they would go outside and play. As they were cavorting around the courtyard at the Semoran Terrace apartments, a man approached them at around 12PM. He disappeared before returning to speak to the children once again. This time, he offered Christina and the young boy $2 each to stand watch at a nearby apartment which he claimed belonged to him and his wife. He told them he was taking Regina with him to pick up his grandchildren and promised to be back within half an hour.
When Regina and the anonymous man didn’t return, Christina started to worry....
𝐑𝐞𝐚𝐝 𝐌𝐨𝐫𝐞:
https://morbidology.com/the-unsolved-murder-of-regina-mae-armstrong/
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impossiblexrose · 2 years
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Anything helps & shares are appreciated
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colinwilson11 · 9 days
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Rare Kidney Disease: An In-Depth Look
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There are over a hundred rare diseases that can impact the functioning of the kidneys. Some of the less common renal diseases include Alport syndrome, Medullary cystic kidney disease (MCKD), Autosomal dominant polycystic kidney disease (ADPKD), and Nephronophthisis.
Alport syndrome is a genetic disorder characterized by kidney failure and hearing loss. It is caused by mutations in genes coding for type IV collagen, which is an important component of the glomerular basement membrane in the kidneys. Over time, the glomeruli are damaged, resulting in proteinuria and declining kidney function. Approximately 1 in 5000 individuals are affected by Alport syndrome worldwide.
Medullary cystic Rare Kidney Disease involves the development of cysts in the medulla of the kidneys, which are the inner regions. Two main types are MCKD type 1 and type 2. They are inherited in an autosomal recessive pattern. Cysts accumulate over time, leading to kidney enlargement and eventual failure. MCKD has a prevalence rate of about 1 in 50,000.
Autosomal dominant polycystic kidney disease is one of the most common life-threatening genetic disorders. It is caused by mutations in the PKD1 and PKD2 genes and is inherited in an autosomal dominant pattern. Multiple cysts form in both kidneys, enlarging them considerably. Symptoms include high blood pressure, kidney pain, urinary tract infections, blood in urine and late-stage renal failure. ADPKD has an incidence of about 1 in 1000-4000.
Nephronophthisis is a tubulointerstitial kidney disease leading to end-stage renal failure during childhood or teenage years in most cases. It is inherited as an autosomal recessive or autosomal dominant trait. Tiny cysts form along the renal tubules as the disease progresses. Overall prevalence is estimated to be between 1 in 50,000 to 1 in 100,000.
Diagnosis And Management Challenges
Given the rarity of these disorders, diagnosing them accurately can prove difficult. Initial tests ordered by doctors usually include urine examination, ultrasound of kidneys, serum creatinine levels and creatinine clearance tests. However, definitive diagnosis requires specialist kidney biopsy in many cases to check for characteristic pathology changes under microscopy. Genetic testing is also important to confirm the specific type and mutation involved.
Lack of awareness about Rare Kidney Disease poses challenges in management. Patients often face delays before reaching specialist nephrologists. Limited published research means treatment protocols are still evolving for some conditions. Managing complications like hypertension, pain, infections etc. requires multidisciplinary teams. Coordinating long-term care and follow-up can be an issue as patients transition between pediatric and adult medical services.
Access To Novel Therapies
As understanding of disease pathways improves, new treatments are being developed for Rare Kidney Disease. For instance, antiviral drugs that block JC polyomavirus replication show promise against Nephropathia epidemica (a zoonotic infection causing tubulointerstitial nephritis). CRISPR gene editing is being explored as a curative approach for hereditary conditions. Drugs inhibiting ACE2/angiotensin pathways help slow ADPKD progression. Research is ongoing into stem cell therapy using patient-derived podocytes for Alport syndrome. Management of symptoms also incorporates dietary changes, lifestyle modifications and palliative care approaches. Government approvals have enabled access to orphan drugs for rare disorders in many countries.
The rare diseases impacting the kidneys remain an important public health problem due to their chronic nature and lack of standardized care protocols. Improving awareness, expediting diagnosis, streamlining multi-specialty management, facilitating clinical trials and making innovative therapies more affordable are some priorities. Coordinated global research programs are necessary to find new treatments and eventually cures for these challenging conditions afflicting patients worldwide.
Get more insights on this topic:  https://www.trendingwebwire.com/rare-kidney-disease-understanding-the-uncommon-causes-of-kidney-failure/
Author Bio
Vaagisha brings over three years of expertise as a content editor in the market research domain. Originally a creative writer, she discovered her passion for editing, combining her flair for writing with a meticulous eye for detail. Her ability to craft and refine compelling content makes her an invaluable asset in delivering polished and engaging write-ups. (LinkedIn: https://www.linkedin.com/in/vaagisha-singh-8080b91)
*Note: 1. Source: Coherent Market Insights, Public sources, Desk research 2. We have leveraged AI tools to mine information and compile it
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fadingtrashkitty · 3 months
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conversationpoint · 5 months
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Alport Syndrome Market Size is expected to grow at a CAGR of 69% by 2034, estimates DelveInsight | ELX-02, Atrasentan, Finerenone, Setanaxib, BAY3401016, More
http://dlvr.it/T6dqT9
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soumyafwr · 8 months
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Alport Syndrome Market Overview, Competitive Analysis and Forecast 2031
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brookstonalmanac · 7 months
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dratefahmed1 · 2 years
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Meniere’s Disease Triad/Medical Triads/Medical Mnemonics /#shorts/Medical students/Frcs/Usmle/ mrcs
#Meniere’s_Disease_Triad #shorts #Meniere’s_Disease #triad,#medical_triad,#pediatric,#medicine,#mrcpch,#mbbs,#plab,#amc,#usmle,#doctor,#mnemonic #shortsvideo #shortsfeed #shortsyoutube #shortsbeta #shortsviral #shorts_ #shortsindia #shorts #no1doctor #Medical_students #Dratef #triad,#medical_triad,#pediatric,#medicine,#mrcpch,#mbbs,#plab,#amc,#usmle,#doctor,#mnemonic #Medical_Triads #Tetrads…
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universalnewspoint · 7 months
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Alport Syndrome Market to witness growth by 2034, estimates DelveInsight | Eloxx Pharmaceuticals, River 3 Renal Corp, Chinook Therapeutic, Travere Therapeutics, Reata Pharmaceuticals
http://dlvr.it/T3QQZH
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desmoinesnewsdesk · 7 months
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Alport Syndrome Market to witness growth by 2034, estimates DelveInsight | Eloxx Pharmaceuticals, River 3 Renal Corp, Chinook Therapeutic, Travere Therapeutics, Reata Pharmaceuticals
http://dlvr.it/T3QPQS
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hopetribune · 7 months
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Alport Syndrome Market to witness growth by 2034, estimates DelveInsight | Eloxx Pharmaceuticals, River 3 Renal Corp, Chinook Therapeutic, Travere Therapeutics, Reata Pharmaceuticals
http://dlvr.it/T3QPLJ
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newsheadlinesnow · 7 months
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Alport Syndrome Market to witness growth by 2034, estimates DelveInsight | Eloxx Pharmaceuticals, River 3 Renal Corp, Chinook Therapeutic, Travere Therapeutics, Reata Pharmaceuticals
http://dlvr.it/T3QP0C
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