#Symptoms And Diagnosis

[efino-media]

Troubled by Kidney Stones? Here's what to do!

Kidney stones are a common and painful condition that affects many individuals. Formed over time due to the accumulation of waste substances in the body, kidney stones can cause severe discomfort and lead to urinary tract infections. In this article, we will explore the formation of kidney stones, their effects on the body, and the potential remedies offered by Ayurvedic medicine. Section 1:…

[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

[manuelnunezmd]

Understanding Cholecystitis: Causes, Symptoms, and Treatment

Imagine this: You're enjoying your favorite meal when all of a sudden, you're hit with a sharp pain in your upper abdomen that radiates to your right shoulder, making it difficult for you to even sit up straight. You're experiencing cholecystitis!

Imagine this: You’re enjoying your favorite meal when all of a sudden, you’re hit with a sharp pain in your upper abdomen. It’s so intense that it radiates to your right shoulder, making it difficult for you to even sit up straight. You’re experiencing cholecystitis, an inflammation of the gallbladder that can cause severe abdominal pain and other complications. This article aims to provide an…

[lazylittledragon]

oK so after like?? 3+ years of trying to treat my IBS i just found out i almost DEFINITELY actually have RCPD??? no wonder nothing was working it's not the food it's my FUCKING BODY that's the problem!!!

[pikhachu]

girls when their issues get dismissed as anxiety for the millionth time

[turns-out-its-adhd]

Did you kNoW?

Stimulants affect people with ADHD differently because our brains are not processing the naturally produced dopamine as effectively as a neurotypical brain would. The stimulant helps boost us to a 'normal' feeling level.

This is why when a neurotypical person takes ADHD medication they have extreme bursts of productivity and write their thesis in one night or I dunno remodel their house, while an ADHD person might just take them and be like 'Hooray I managed to wash my clothes and hang them up in the same day!'

Jokes on them though, because I can drink coffee at 11pm and sleep right after. Take that society.

[ooppo]

Btw for anyone who needs to hear it: thinking that people are reading your mind/your thoughts are being heard by everyone is not normal. It's a symptom of psychosis and could be linked to a psychiatric disorder. This, too, goes with hallucinations.

This may seem like a no-brainer, but to teens who don't know what symptoms look like, they may jog it off for a number of reasons. I did, too, when I was in highschool! As a freshman I was having delusions/hallucinations and I didn't tell anyone because I thought they were cringe and weird. I chalked up my hallucinations to me being "tired". People who have psychosis often don't realize that what they're experiencing IS psychosis. This goes the same with other classmates/friends/loved ones. If someone comes to you with concerning behavior (even if they are joking about it) you should take note of it.

In highschool I remember a kid talking about how he could go into the matrix and he had a whole other world to protect/do missions in. He would also go still for long periods of time randomly. I thought he was weird and didn't think much of it, but those are symptoms of schizophrenia (delusions/catatonia).

I would appreciate it if this got a reblog so it could potentially help those recognize these symptoms in either themselves or others!

I wish I could have seen a post like this when I was younger. Then I could have avoided a lot of hardships and would have gotten treatment a lot sooner

[jasperthejester]

me: finally accepting theres a good chance im autistic and starting to work up the courage to ask my parents to see if i could get a diagnoses but being scared to

my mom: do you ever think you have adhd? if you want to do a screening for add next time your at the doctors you can

me:

[spitblaze]

I think. some people are so eager to fit everything that pisses them off into their political framework that they end up with very strange takes

[angelellipsis-devilofdots]

since autism often involves strict planning and routine whereas adhd often cannot function under such plans and routines, do audhd people have two wolves inside them who are constantly fighting like. "we NEED a plan" and "there will be NO PLAN or there will be NO MOTIVATION"

[pansyfemme]

im like that tweet that goes 'i'm probably nonbinary but i have a job so idc' but with my disabilities. i am too busy for a pots diagnosis rn so we ignore all that

[chronicillnesshumor]

One doctor just throws you to another doctor and it is an endless cycle

[colinwilson11]

[deplcythebattery]

why are functional disorders not seen as real? why is the functional part what makes people think it's not real? i'm autistic and struggling to grasp why the word functional means not real to a lot of people. like. it's a functional disorder. it affects functioning. why is that not a big deal? why does that make it not real like other disorders that aren't labeled functional disorders?

also why does it not count as a real disability if it's functional?

[cupidreamexe]

this disability pride month i wanna give a shout out to the people who 100% KNOW theyre disabled but have to deal with going through the tedious process of getting a proper official diagnosis. especially if youre just barely on the cusp of not quite meeting the diagnostic criteria so they dont want to diagnose you just yet. the ones who have to monitor their symptoms for months, even years, but the symptoms have melded so much in your daily life that its hard to keep track of whats a symptom and whats 'normal'.

i see you. you are strong. you are not overreacting. you are not faking it. you will get through this. you are not alone.

you are your own best advocate and you deserve to be heard.

[solitaryschizoid]

I'm tired of hearing that self diagnosis isn't valid as if so-called medical professionals don't frequently misdiagnose their patients.

As if the industry of psychiatry isn't evil when homosexuality used to be considered a mental disorder and abused slaves were labeled mentally ill for escaping.

As if the DSM actually makes any fucking sense at all being only descriptive of external symptoms that others deal with when dealing with a person with that disorder instead of symptoms that describe how it's actually like to live with that disorder for the person who has it.

As if everyone conveniently ignores that the stigmatization of mental disorders is created by the psychiatric industry and there are mental disorders that therapists refuse to treat or diagnose because of that stigma.

As if everyone forgets that some mental disorders are so stigmatized that having a diagnosis on your record can ruin your life and make you the target of discrimination and abuse by any and every entity who wishes to have power over you by using your disorder against you.

As if the entire population of the world has access to healthcare which is a privilege that only the fortunate and wealthy can afford.

As if the process of formal diagnosis doesn't begin with self diagnosis.