#adpkd

[chemicalcarousel]

oh god just realised the reason we are so hungry is that we only ate some peanut chips and had two cups of coffee today.... and it's 8:20 pm. or maybe we had a small cake too? who tf knows maybe we ate that yesterday. FUCK WE ALSO FORGOT OUR MEDS bruh i blame adhd for this shit istg not even phone alarms help

[unstablemotions]

Omg I have polls

[bpod-bpod]

Stopping Cystic Cells

More than half the patients with the inherited kidney disease ADPKD will need a kidney transplant. This study shows that the abnormal, cystic cells can be prevented from accumulating by inhibiting clustering of their centrosomes, cell machinery required for division – a potential novel treatment target

Read the published research article here

Image adapted from work by Tao Cheng and colleagues

Department of Medicine, Nephrology Division, Washington University School of Medicine, St. Louis, MO, USA

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Journal of Clinical Investigation insight, May 2024

You can also follow BPoD on Instagram, Twitter and Facebook

[kidneystories2013]

https://x.com/kidneystories/status/1736559499451015653?s=20

Did You Miss The Broadcast With Dr Neera Dahl MD, PhD, expert in the diagnosis and management of inherited (or genetically based) kidney disease, mainly focusing on ADPKD? Catch The Instant Replay Here!

https://fb.watch/oYMRZiLWpC/?mibextid=Nif5oz

[ayin-me-yesh]

Frustrating health problems after the cut.

Ok so my TSH levels get checked every once in a while because my mom has ADPKD and that means I have a 50% chance of having it too and it increases your chance of thyroid cysts.

Over the past year my TSH levels have dropped A LOT. In April of last year they were 2.90 mIU/L. Then in September they were 1.20 mIU/L. And then this January they were 0.38 mIU/L. Usually the normal range is considered either 0.4 or 0.5 to 4.0 mIU/L.

Since January I also have had weird new symptoms: sweating and overheating A LOT, increasing anxiety and mood symptoms which I'm now treating with antidepressants, worsening concentrating, heart palpitations which even showed up on an ECG, worsening gastrointestinal problems, frequent nausea and acid reflux, bouts of light-headedness, really bad fatigue, and hair falling out much faster than normal. (Note that these symptoms happened long before I even found out about my blood test results which I didn't learn until a few weeks ago.)

I have now tried talking to three different GPs and a nurse about this and all of them have told me that my thyroid levels are actively GOOD, they're not worried about it, and that my symptoms are probably just coincidental or psychological.

I'm really, really frustrated because 0.38 mIU/L is absolutely NOT normal by any definition and it's not like a blood test result could be psychological and they have verifiable evidence from previous appointments this summer that I was having these symptoms before I knew the results. But I am clearly not going to get any follow-up. Meanwhile my gastrointestinal symptoms have been really bad the past couple weeks and I don't even think I can talk to them about those now separately since they might be related anyway and I'm also generally being written off again as neurotic.

[sleuthy-scientist]

La Famiglia è per Sempre Chapter 1

Summary: David Rossi finds out he might be dying. Afraid of the reality of his situation, he tries to rely on the people around him for support. His new reality makes him question the meaning in his life. Along the way he discovers the truth about family.

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The Doctors said he was lucky they caught it when they did, considering the common early detection signs and symptoms for his condition hadn't occured. Luck had nothing to really do with it, Emily had been the one to convince him to get tested. First goading him to try and prove her wrong. And when that tactic didn't work, guilt tripping him with full on puppy dog eyes pleading, for her sake and peace of mind.

They told him that he had Polycystic kidney disease (PKD), Autosomal dominant polycystic kidney disease (ADPKD) to be exact. That his condition is a genetic disorder that causes cysts to grow in the kidneys, where they can disrupt functioning.

His high blood pressure had been noted in his charts by his regular physician with the suspected underlying cause of the stress due to a combination of his job and age. Yet unfortunately because of this slight oversight with his hypertension, his condition had progressed to the beginning stages of kidney failure.

Dave knew this immediately spelled desk duty for him. That his time as a field was done and his agent status may soon to have effectively come to an end. He had always assumed he would have retired this time due and work related injury or died a noble death on the job. It pained him knowing this could be the beginning of the end for him and his career.

The doctors with his input immediately came up with a plan of action. They decided to start him on medications and dialysis once a week, hoping that would be sufficient. That within a few weeks they would reevaluate, having a clearer picture and better handle on the needs and limitations of his condition.

With an actual diagnosis and regular treatment plan in place, Dave knew he wouldn't be able to hide it from the team for long. Especially with his treatment starting in two days. He knew he needed to start to get the priorities of his life in order, if he hoped to have any life left to live. His other priority was Joy and his BAU family. Until he had more news he didn't want to worry his daughter with his medical condition. That left the individuals who had already seen him at his worst, the ones who shared his everyday life. The people who he was responsible for, who he wanted to rely on him and be able to always support. Not the other way around, but he knew that may no longer be his decision. He couldn't lie or decide to up and leave them with no explanation. In their line of work they lost too many people and were left with to many regrets. He knew they would never forgive him if he kept this a secret. If he chose to disappear and slowly die on his own without them, out of pride or fear.

David Rossi was a lot of things, but he wasn't stupid, he knew he needed their support if he had any hopes of beating this thing. So he invited them over, for what might be the last team dinner he hosted for awhile. He wanted to have one more meal as a family with some semblance or sense of normalcy, knowing his news could wait until after dessert to be announced.

Everyone had been shocked and rendered momentarily speechless, worried for him upon learning of the life altering news he received. No one expected the nerve wracked Reid to be the first one to find words to fill the silence that had overtaken the room.

With his diagnosis, Spencer informed them all that typically his disease was caught a decade of two earlier and managed through diet, excercise and medication. That it had a fairly decent outcome and life expectancy if he followed the treatment plan.

He spouted off some other statistics most instantly forgot, too distracted by their own thoughts and feelings on the matter. But they still understood the gist of the genius's intended spiel. He was just as worried and distraught as the rest of them, try to make sense of the information they learned. But most of all afraid of the possibility of losing a piece of their family.

Once Reid finished speaking, he couldn't hold off the tears he had been trying to keep at bay. No one in the room was completely dry eyed as they all tried to digest the news. Slowly they all began to ask clarifying questions of the man of the hour about his condition and next steps going forward.

Hours later, Emily had been the last to leave, only showing the depth of her true emotions to him. Dave held onto her a little longer than usual, needing her strength, afraid to let go knowing he couldn't stop whatever came next for him. That this wasn't some nightmare he could simply wake up from.

As their embrace broke, he asked her what made her force him to get tested. He was hoping she would say something profound and wise, that would resonate with in him, and help him make sense of things.

Yet, she simply told him, it was a gut feeling she had, especially with his abnormal headaches as of late. That to her, something about him just seemed off, that he didn't seem himself with his usual laser sharp level of focus and observation. She couldn't explain it beyond that, beside knowing she needed him to be okay.

While her words hadn't provided him the type of clarification he had secretly and niavely hoping for, nor could she fix the predicament he found himself in, what she said provided another form of relief from his pain.

He wasn't surprised she of all people had noticed, Emily was the best profiler he had ever had the pleasure of working with. With her extreme empathy and gut instincts, she had always been the one looking out and supporting others, making sure they were ok. She had always been the first person to notice something was wrong and to begin trying to make it right.

He was just glad to have someone who obviously cared that deeply for his well-being in his life. For her sake and the team's, he wanted to bravely fight until he ran out of options. He hadn't given up against an enemy before, he wasn't about to start now.

~~~~~~~~~~

[colinwilson11]

Rare Kidney Disease: An In-Depth Look

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

[chemicalcarousel]

Worst thing about having a kidney disorder is the fact that psychopharmica won't be an option for us long term. And we can't take adhd meds bc of them increasing our blood pressure, which is already high. We are trying to keep our kidneys working for as long as possible. If we are super lucky, they'd stop working in our 60s, but honestly it's probably in our late 40s or 50s where we need dialysis or a new kidney. Luckily we have free health care here, so we won't die from this probably, or well, we're gonna die a little earlier than without the disorder, but idk man it's whatever lol just sucks having neurodivergencies and adpkd at the same time

[leedsomics]

Multi-omics profiling of mouse polycystic kidney disease progression at a single cell resolution

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and causes significant morbidity, ultimately leading to end-stage kidney disease. PKD pathogenesis is characterized by complex and dynamic alterations in multiple cell types during disease progression, hampering a deeper understanding of disease mechanism and the development of therapeutic approaches. Here, we generate a single nucleus multimodal atlas of an orthologous mouse PKD model at early, mid and late timepoints, consisting of 125,434 single-nucleus transcriptomic and epigenetic multiomes. We catalogue differentially expressed genes and activated epigenetic regions in each cell type during PKD progression, characterizing cell-type-specific responses to Pkd1 deletion. We describe heterogeneous, atypical collecting duct cells as well as proximal tubular cells that constitute cyst epithelia in PKD. The transcriptional regulation of the cyst lining cell marker GPRC5A is conserved between mouse and human PKD cystic epithelia, suggesting shared gene regulatory pathways. Our single nucleus multiomic analysis of mouse PKD provides a foundation to understand the earliest changes molecular deregulation in a mouse model of PKD at a single-cell resolution. http://dlvr.it/T7jtLy

[kidneystories2013]

https://x.com/kidneystories/status/1737085581908226094?s=20

Did You Miss The Broadcast With Dr Neera Dahl MD, PhD, expert in the diagnosis and management of inherited (or genetically based) kidney disease, mainly focusing on ADPKD? Catch The Instant Replay Here!

https://fb.watch/oYMRZiLWpC/?mibextid=Nif5oz

[thesunshinereporter]

ADPKD Market to Witness Upsurge in Growth During the Forecast Period (2023-2032), Examine DelveInsight | Palladio Biosciences, Kadmon, Novartis, Pfizer, Otsuka Pharma, XORTX Therapeutics, Sanofi

http://dlvr.it/T00ZdH

[neohospital01]

Know About the Inherited Kidney Diseases!

Kidneys are vital organs that play a crucial role in maintaining the body's overall health. Unfortunately, some individuals are born with or inherit kidney diseases, which can have a significant impact on their lives. In such cases, consulting a nephrologist in Noida, especially the best nephrologist in Noida, affiliated with NEO Hospital, is crucial. In this blog, we will explore inherited kidney diseases, their causes, symptoms, and the importance of seeking expert medical care.

What Are Inherited Kidney Diseases?

Inherited kidney diseases, also known as genetic kidney diseases, are conditions that are passed down through families due to genetic mutations. These mutations can affect the structure and function of the kidneys, potentially leading to a wide range of kidney-related problems. These conditions can be present at birth or become apparent later in life.

Common Types of Inherited Kidney Diseases

1. Polycystic Kidney Disease (PKD): PKD is one of the most prevalent inherited kidney diseases. It causes fluid-filled cysts to form in the kidneys, leading to an increase in kidney size and a decline in function over time. Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD) are the two primary forms of PKD.

2. Alport Syndrome: Alport syndrome is a genetic disorder that affects the basement membrane of the kidneys, leading to hematuria (blood in the urine), hearing loss, and eye abnormalities. It can lead to chronic kidney disease and eventually kidney failure.

3. Fabry Disease: Fabry disease is a rare genetic disorder that affects the metabolism of lipids. It can lead to kidney damage, along with other systemic symptoms such as skin rashes, pain, and gastrointestinal issues.

4. Nephronophthisis: Nephronophthisis is a group of inherited kidney diseases that primarily affect children and young adults. It leads to the gradual loss of kidney function, ultimately resulting in kidney failure.

Symptoms and Diagnosis

The symptoms of inherited kidney diseases can vary depending on the specific condition and its stage. Common signs to watch out for include:

● Blood in the urine (hematuria)

● High blood pressure

● Frequent urinary tract infections

● Swelling in the face, hands, or feet

● Back or side pain

● Decreased kidney function

To diagnose inherited kidney diseases, genetic testing is often necessary. A nephrologist will review the patient's medical history, perform a physical examination, and order specific tests such as blood and urine analysis, imaging studies, and, in some cases, genetic testing.

The Role of a Nephrologist

When dealing with inherited kidney diseases, it is essential to consult a nephrologist, a specialised medical professional with expertise in diagnosing and treating kidney conditions. In Noida, NEO Hospital provides access to some of the best nephrologists who can offer comprehensive care for patients with inherited kidney diseases.

Treatment and Management

The management of inherited kidney diseases often focuses on slowing the progression of the condition, managing symptoms, and preventing complications. Specific treatment strategies may include:

1. Blood pressure control: Maintaining blood pressure within a healthy range is crucial to protect the kidneys.

2. Medications: Certain medications may be prescribed to manage symptoms, such as pain, and high blood pressure, or to delay the progression of kidney disease.

3. Dialysis or transplantation: In severe cases of kidney failure, dialysis or kidney transplantation may be necessary.

Conclusion

Inherited kidney diseases can be challenging, but with the guidance of the best nephrologist in Noida, affiliated with NEO Hospital, patients can receive the specialised care they need. Early diagnosis, proper management, and a support system are essential to living a fulfilling life despite these conditions. If you suspect you or a loved one may have an inherited kidney disease, seek medical attention promptly to receive a personalised treatment plan. Remember, knowledge and timely intervention can make a significant difference in the outcome.

Read Also…

Best Neuro Physician in Noida

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[drpriya]

Polycystic Kidney Disease (PKD) is a genetic disorder characterised by the growth of numerous fluid-filled cysts in the kidneys. These cysts can vary in size and number, and as they grow, they can replace normal kidney tissue, leading to a decrease in kidney function. PKD is one of the most common genetic kidney diseases and can lead to serious complications, including kidney failure.

There are two main types of PKD:

Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is the most common form of PKD and is typically diagnosed in adulthood. It is an autosomal dominant genetic disorder, which means that if one parent carries the mutated gene, there is a 50% chance that their child will inherit the disease. ADPKD progresses slowly, and cysts can develop in other organs, such as the liver and pancreas, in addition to the kidneys.

Autosomal Recessive Polycystic Kidney Disease (ARPKD): This is a rarer form of PKD that is usually diagnosed in infancy or childhood. ARPKD is caused by a mutation in a different gene than ADPKD and is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to develop the disease. This form of PKD can be more severe, leading to kidney and liver problems in affected individuals.

Symptoms of PKD can vary but may include:

Abdominal pain or discomfort

High blood pressure

Hematuria (blood in the urine)

Frequent urinary tract infections

Kidney stones

Kidney enlargement

Complications such as cyst infections, bleeding into cysts, or kidney failure

The management of PKD involves monitoring kidney function, controlling blood pressure, and addressing complications as they arise. In some cases, when kidney function declines significantly, kidney transplantation may be necessary to replace the diseased kidneys with a healthy donor kidney.

Because PKD is a genetic condition, it cannot be prevented, but early detection and medical management can help slow its progression and improve the quality of life for affected individuals. Genetic counselling and testing can be valuable for individuals with a family history of PKD to understand their risk and make informed decisions about family planning.

Here are some key aspects of PKD treatment:

Blood Pressure Management:

Controlling high blood pressure is crucial in PKD to slow down kidney damage. Medications such as angiotensin-converting enzyme (ACE) inhibitors and angiotensin II receptor blockers (ARBs) are commonly prescribed to help lower blood pressure and reduce proteinuria (protein in the urine).

Pain Management:

Pain associated with enlarged kidneys or complications such as cyst infections or bleeding may require pain relief medications. In some cases, draining large cysts or performing surgery may be necessary to alleviate pain.

Cyst Infection Treatment:

If a cyst becomes infected, antibiotics are used to treat the infection. In some cases, drainage of the infected cyst may be required.

Dietary Modifications:

Maintaining a healthy diet low in sodium and protein can help manage blood pressure and reduce the risk of complications. Healthcare providers may also recommend limiting caffeine and alcohol intake.

Management of Complications:

Complications such as kidney stones, urinary tract infections, and cyst hemorrhages may require specific treatments, including pain management, antibiotics, or procedures to address the issue.

Kidney Function Monitoring:

Regular monitoring of kidney function through blood tests (creatinine, BUN) and urine tests (urinalysis) is essential to assess the progression of the disease and adjust treatment as needed.

Lifestyle Modifications:

Adopting a healthy lifestyle can be beneficial. This includes regular exercise, maintaining a healthy weight, and avoiding smoking or excessive alcohol consumption.

Kidney Transplantation:

In advanced stages of PKD when kidney function declines significantly and reaches end-stage renal disease (ESRD), kidney transplantation may be necessary. This involves replacing the diseased kidneys with a healthy donor kidney. Transplantation can provide a better quality of life and improved survival for individuals with ESRD due to PKD.

Supportive Care:

Supportive care, including access to support groups and counseling, can help individuals and families cope with the emotional and psychological aspects of living with PKD.

Individuals with PKD to work closely with their healthcare team, which may include nephrologists (kidney specialists), urologists, and other specialists, to develop and implement a personalized treatment plan. Regular follow-up appointments and adherence to treatment recommendations are critical to managing PKD effectively and preventing complications.

Additionally, genetic counseling may be recommended for individuals with PKD who are considering family planning, as the disease is hereditary, and there are genetic testing options available to assess the risk of passing PKD on to offspring. Know all about Kidney diseases and treatments at best hospitals like Indraprastha Apollo Hospitals.

[thealphareporter]

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Pipeline Analysis (2023) Covering Clinical Trials, Emerging Therapies, FDA, EMA, and PMDA Approvals, Competitive Landscape | Sanofi, Poxel, Healx

http://dlvr.it/SwNHnj