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Autosomal recessive polycystic kidney disease (ARPKD)

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the development of the kidneys and liver is abnormal. Over time, either one of these organs may fail.

The condition often causes serious problems soon after birth, although less severe cases may not become obvious until a child is older.

ARPKD can cause a wide range of problems, including:

  • underdeveloped lungs, which can cause severe breathing difficulties soon after birth
  • high blood pressure (hypertension)
  • excessive peeing and thirst
  • problems with blood flow through the liver, which can lead to serious internal bleeding
  • a progressive loss of kidney function, known as chronic kidney disease (CKD) 

When these problems develop and how severe they are can vary considerably, even between family members with the condition.

Read more about the symptoms of ARPKD and diagnosing ARPKD.

Even though ARPKD is rare, it's one of the most common kidney problems to affect young children.

It's estimated around 1 in 20,000 babies is born with the condition. Both boys and girls are affected equally.

The kidneys

The kidneys are 2 bean-shaped organs located on either side of the body, just beneath the rib cage.

The main role of the kidneys is to filter out waste products from the blood before passing them out of the body as urine.

The kidneys also help maintain blood pressure at a healthy level.

What causes ARPKD?

ARPKD is caused by a genetic fault that disrupts normal development of the kidneys and liver.

In particular, the growth and development of the small tubes that make up the kidneys is affected, causing bulges and cysts (fluid-filled sacs) to develop within them.

Over time, the cysts cause the kidneys to become enlarged and scarred (fibrosis), resulting in the deterioration of overall kidney function.

Similar problems also affect the small tubes (bile ducts) that allow a digestive fluid called bile to flow out of the liver.

The bile ducts may develop abnormally and cysts may grow inside them. The liver can also become scarred over time.

ARPKD is caused by a genetic alteration in the gene PKHD1, which in most cases is passed on to a child by their parents.

If both parents carry a faulty version of this gene, there's a 1 in 4 chance of each child they have developing ARPKD.

The way ARPKD is inherited is different from a more common type of kidney disease called autosomal dominant polycystic kidney disease (ADPKD), which usually does not cause significantly reduced kidney function until adulthood.

ADPKD can be inherited if only 1 parent carries one of the genetic faults responsible for the condition.

Find out more about the causes of ARPKD

Treating ARPKD

There's currently no cure for ARPKD, but various treatments can help manage the wide range of problems it can cause.

Treatment for ARPKD may include:

  • breathing assistance with a machine that moves air in and out of the lungs (a ventilator) for children with severe breathing difficulties
  • medication to treat high blood pressure
  • procedures to stop any internal bleeding that may occur
  • medications to control problems associated with the loss of kidney function, such as iron supplements for anaemia.

More than half of all children who survive the early stages of ARPKD will eventually experience kidney failure by the time they're 15 to 20 years old.

If kidney failure does occur, there are 2 main treatment options:

  • dialysis, where a machine is used to replicate many functions of the kidney
  • a kidney transplant, where a healthy kidney is removed from a living or recently deceased donor and implanted into someone with kidney failure

Find out more about how ARPKD is treated

Outlook

The outlook for children with ARPKD can vary considerably depending on the severity of the condition.

If routine scans pick up kidney problems during pregnancy, the baby will usually have a poorer outlook than a child who's diagnosed at a later stage.

But in general, ARPKD is a severe condition and around 1 in 3 babies will die from severe breathing difficulties during the first 4 weeks after birth.

About 8 or 9 out of 10 babies with ARPKD who survive the first month of life will live until they're at least 5 years old.

It's difficult to predict exactly how long a child with ARPKD will live because there's very little data showing long-term survival rates.

But with advances in treatments and a better understanding of the condition, increasing numbers of children with ARPKD are living well into adulthood.

Information about you

If you have ARPKD, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register

HealthUnlocked contains information from NHS Digital, licensed under the current version of the Open Government Licence

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34,306 public posts

Need information please

Hello I’m new to all this. I’m 54 yo man. No known family members have pkd. In August o 2019 I had a Ct scan that showed bi laterial parapelvic cysts and a 4 mm cortal cyst on my right kidney and a 7 mm cortal on my left. I also have hectic cyst scattered in both lobes. Kidney function is nor am gfr
Hello I’m new to all this. I’m 54 yo man. No known family members have pkd. In August o 2019 I had a Ct scan that showed bi laterial parapelvic cysts and a 4 mm cortal cyst on my right kidney and a 7 mm cortal on my left. I also have hectic cyst scattered in both lobes. Kidney function is nor am gfr
birddog923
in PKD Charity for Autosomal Dominant PKD

New to PKD

I was diagnosed with PKD in August 2020 following a CT scan after suffering weeks of fevers & unbearable headaches. I had a severe infection in my right kidney; burst abscess led to a near month long hospital stay, cyst drainage & weeks of antibiotics. It all came as a huge shock; but I’m now recovered
I was diagnosed with PKD in August 2020 following a CT scan after suffering weeks of fevers & unbearable headaches. I had a severe infection in my right kidney; burst abscess led to a near month long hospital stay, cyst drainage & weeks of antibiotics. It all came as a huge shock; but I’m now recovered
Lynx14
in PKD Charity for Autosomal Dominant PKD

Advice for mums with children that have ADPKD

Hi All, I’ve been a member here for a year, and not written anything, Not sure why I just did want to accept it I guess. I would like to know if there are any mums out there in this community that have kids with PKD? I have 4 children and 2 of my girls my youngest children have ADPKD At the time of
Hi All, I’ve been a member here for a year, and not written anything, Not sure why I just did want to accept it I guess. I would like to know if there are any mums out there in this community that have kids with PKD? I have 4 children and 2 of my girls my youngest children have ADPKD At the time of
Mummaof2pkdkids
in PKD Charity for Autosomal Dominant PKD
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PKD diagnosis + aortic dissection

Hello, My partner (33) underwent emergency surgery following an aortic dissection. The operation was very long and very complicated but, after 6 weeks in hospital, he got home and is recovering slowly. As a result of the numerous scans carried out, the doctors also discovered he has PKD. We are
Hello, My partner (33) underwent emergency surgery following an aortic dissection. The operation was very long and very complicated but, after 6 weeks in hospital, he got home and is recovering slowly. As a result of the numerous scans carried out, the doctors also discovered he has PKD. We are
evelyn000
in PKD Charity for Autosomal Dominant PKD

Any one know ......

Hi due to have my pneumonia vacination next week it's been 8 years since my last vaccination back in 2013 and they only gave me the adult one pneumovax 23 ( pnn23) then I phoned up my GPs to book this and Spoke to the practice nurse explained it's been 8 years since my last one and I wanted the
Hi due to have my pneumonia vacination next week it's been 8 years since my last vaccination back in 2013 and they only gave me the adult one pneumovax 23 ( pnn23) then I phoned up my GPs to book this and Spoke to the practice nurse explained it's been 8 years since my last one and I wanted the
stewie
in CLL Support

Heavy legs and Parkinson’s High Every body

This is Cinderella63 I have not been to visit for quite a time I can’t really explain the reason why I havnt been if I spoke the truth it’s because I’ve had quite a long spell of depression but I do believe I am coming out of it and I want to visit more often I mentioned heavy legs that is the
This is Cinderella63 I have not been to visit for quite a time I can’t really explain the reason why I havnt been if I spoke the truth it’s because I’ve had quite a long spell of depression but I do believe I am coming out of it and I want to visit more often I mentioned heavy legs that is the
Cinderella63
in Restless Legs Syndrome

LSD acid on Dialysis

My teen is ESRD and has been for two years. He has also struggled with Leukemia, and anxiety/depression. He has a friend that's telling him to use LSD! He's been doing research online and he's convinced he wants to try it... I'm worried sick. I've seen online that acid is metabolized in the liver, so
My teen is ESRD and has been for two years. He has also struggled with Leukemia, and anxiety/depression. He has a friend that's telling him to use LSD! He's been doing research online and he's convinced he wants to try it... I'm worried sick. I've seen online that acid is metabolized in the liver, so
Firefingers
in Kidney Dialysis

Are my nails Terry nails?

Hello guys, am wondering if my nails are terry nails, as after a i saw them and Googled it I had full liver blood test, diabetes, kidney test came back normal ferritin also normal please advise
Hello guys, am wondering if my nails are terry nails, as after a i saw them and Googled it I had full liver blood test, diabetes, kidney test came back normal ferritin also normal please advise
Hum1991
in British Liver Trust

Is there something we can do?

I feel that this forum mostly consists of people acknowledging each other’s struggles but more often than not without any real answers or solutions (because we just don’t have them) and in a similar way to how reddit got together to change Wall Street with investments, or BLM protested and got the worlds
I feel that this forum mostly consists of people acknowledging each other’s struggles but more often than not without any real answers or solutions (because we just don’t have them) and in a similar way to how reddit got together to change Wall Street with investments, or BLM protested and got the worlds
Beech33
in Endometriosis UK

lifetime of hard work

Hello, My name is Richard. I've worked in a plastic factory with toxic chemicals and breathed toxic welding fumes for 30 years until my lower back discs were worn out and my prostate became enlarge. Doctors useless treatments for the prostate lead to my kidneys going bad. I been on dialysis for 3
Hello, My name is Richard. I've worked in a plastic factory with toxic chemicals and breathed toxic welding fumes for 30 years until my lower back discs were worn out and my prostate became enlarge. Doctors useless treatments for the prostate lead to my kidneys going bad. I been on dialysis for 3
RichardOtt
in Kidney Dialysis

blood results in for RLS

iron test- ferritin; 53.8ug/l normal= 30-400ug/l TIBC: 57.77umol/l normal= 45-72umol/l UIBC: 33.3umol/l normal= 22.3-61.7 umol/l transferrin saturation: 42.36% normal 20-50 % iron: 24.47umol/l normal 5.8- 34.5umol/l folate serum: 8.32ug/l normal 3.89-19.45ug/l vitamin b12- active
iron test- ferritin; 53.8ug/l normal= 30-400ug/l TIBC: 57.77umol/l normal= 45-72umol/l UIBC: 33.3umol/l normal= 22.3-61.7 umol/l transferrin saturation: 42.36% normal 20-50 % iron: 24.47umol/l normal 5.8- 34.5umol/l folate serum: 8.32ug/l normal 3.89-19.45ug/l vitamin b12- active
ge7521
in Restless Legs Syndrome

Scans and endo

Hi girls I've been a bit quiet on here but im looking for advice as I'm on the edge of my teether now. I was diagnosed with endometriosis in 2019 and had to been ok since had my bad days and good days. Last year things got bad again, ive been super bloated since December and I cant get anything to get
Hi girls I've been a bit quiet on here but im looking for advice as I'm on the edge of my teether now. I was diagnosed with endometriosis in 2019 and had to been ok since had my bad days and good days. Last year things got bad again, ive been super bloated since December and I cant get anything to get
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in Endometriosis UK

Existing heart failure drug may treat potential COVID-19 long-hauler symptom.

In a new study out of University of California San Diego School of Medicine, researchers found a drug used for heart failure improves symptoms associated with postural orthostatic tachycardia syndrome, otherwise known as POTS. This complex, debilitating disorder affects the body’s autonomic nervous system
In a new study out of University of California San Diego School of Medicine, researchers found a drug used for heart failure improves symptoms associated with postural orthostatic tachycardia syndrome, otherwise known as POTS. This complex, debilitating disorder affects the body’s autonomic nervous system
2greys
in British Lung Foundation

AKI

Hello Wondered if anyone on here has suffered Acute Kidney Injury and recovered well? Private message me if preferred please . Thank you. Edit: I have put another post on here. Thank you.
Hello Wondered if anyone on here has suffered Acute Kidney Injury and recovered well? Private message me if preferred please . Thank you. Edit: I have put another post on here. Thank you.
Mary-intussuception
in Early CKD Support

22month old daughter holding her poop

Hello all, newly joined as a pediatrician we visit recommended we have a look. In short, my daughter chronically holds her poo, especially when it gets harder. She is 22months old and we've been dealing with this since she had a scary/painful poo around 6months. Currently treating with picosulphate
Hello all, newly joined as a pediatrician we visit recommended we have a look. In short, my daughter chronically holds her poo, especially when it gets harder. She is 22months old and we've been dealing with this since she had a scary/painful poo around 6months. Currently treating with picosulphate
shicky4
in ERIC

phosphorous ?

I have been diagnosed stage 2 CKD : potassium and sodium fine, but phosphorous raised, so my GP sent me for a liver scan , which the radiographer said he could see nothing on it to be worried about, but I am wondering why my doctor sent me for a liver scan and not a kidney one ? I haven't been
I have been diagnosed stage 2 CKD : potassium and sodium fine, but phosphorous raised, so my GP sent me for a liver scan , which the radiographer said he could see nothing on it to be worried about, but I am wondering why my doctor sent me for a liver scan and not a kidney one ? I haven't been
barneyfrances
in Early CKD Support

Imbruvica Good News

Diagnosed with B-PLL (CLL) around Feb 2020...just before Co-Vid. Was on W+W until Dec 2020. WBC went from initial 99K to 357 K and hematologist said it's time to start medication. On Imbruvica 420mg @ 1X day for 2 months now. WBC went from 339K in Jan 2021 to 220K in Feb 2021. No side effects other
Diagnosed with B-PLL (CLL) around Feb 2020...just before Co-Vid. Was on W+W until Dec 2020. WBC went from initial 99K to 357 K and hematologist said it's time to start medication. On Imbruvica 420mg @ 1X day for 2 months now. WBC went from 339K in Jan 2021 to 220K in Feb 2021. No side effects other
Phyllis731
in CLL Support

Bilateral Salpingo-Oophorectomy

Hi, just wondering if any of you lovely ladies have had a Bilateral Salpingo-Oophorectomy? I’ve got endo, had cysts removed laparoscopically in 2012, all fine after that until recently when I’ve started to experience quite bad pain. An ultrasound has revealed a large cyst on one of my ovaries. Consultant
Hi, just wondering if any of you lovely ladies have had a Bilateral Salpingo-Oophorectomy? I’ve got endo, had cysts removed laparoscopically in 2012, all fine after that until recently when I’ve started to experience quite bad pain. An ultrasound has revealed a large cyst on one of my ovaries. Consultant
Sassy123455
in Endometriosis UK

Creatinine

So my creatinine has jumped up and GFR dropped like 40 points. So I took two blood tests, kidney is not in rejection. I haven’t gotten the results of the second test but it’s to see if the transplant kidney is producing it’s own antibodies. I have had some serious UTI’s which I’m sure is one of the
So my creatinine has jumped up and GFR dropped like 40 points. So I took two blood tests, kidney is not in rejection. I haven’t gotten the results of the second test but it’s to see if the transplant kidney is producing it’s own antibodies. I have had some serious UTI’s which I’m sure is one of the
Dara3351
in Kidney Transplant Patient Support

Dialysis

Hi I would like to introduce myself I am a 45 yr old woman who’s been diagnosed with lupus in 2009 . I have been told only today my kidney function as dropped to 9 % so I will have to go on dialysis till I get a transplant. And I was wondering if anyone else is on home dialysis as that’s where my minds
Hi I would like to introduce myself I am a 45 yr old woman who’s been diagnosed with lupus in 2009 . I have been told only today my kidney function as dropped to 9 % so I will have to go on dialysis till I get a transplant. And I was wondering if anyone else is on home dialysis as that’s where my minds
Basilbonce
in LUPUS UK
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