Materiały źródłowe

• #1

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function. […] There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure.

• #2

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-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. […] 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.

• #3

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This review discusses aspects of early manifestations in ARPKD and its clinical management with a special focus on kidney disease. […] The management of perinatal and early disease symptoms may be challenging. […] Interdisciplinary treatment should be established early in life. […] ARPKD is one of the two major indications for pediatric combined liver and kidney transplantation, although clear-cut recommendations for this indication remain to be established. […] Given the complexity of postnatal treatment of patients with suspected ARPKD, delivery in a hospital with specialized neonatal and pediatric nephrological care may be required. […] Severely affected children and their families will benefit from an interdisciplinary treatment. This includes situations in which the decisions for palliative treatment with restriction of intensive care including dialysis may have to be taken.

• #4 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. Cesarean delivery may be preferred if ARPKD is diagnosed antenatally due to the increased risk of dystocia from the massively enlarged fetal kidneys.[39][42][43] […] Nephrectomy is occasionally required for significantly enlarged kidneys compromising respiratory or gastrointestinal function but is associated with significant complications.[12] ARPKD patients with end-stage kidney disease who ultimately receive renal transplants can benefit from nephrectomies of their nonfunctional kidneys by making more room available for the new kidney and facilitating blood pressure control after transplantation.[5]

• #5 Autosomal Recessive Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/19424

  Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. Cesarean delivery may be preferred if ARPKD is diagnosed antenatally due to the increased risk of dystocia from the massively enlarged fetal kidneys.[39][42][43] (B3) […] Nephrectomy is occasionally required for significantly enlarged kidneys compromising respiratory or gastrointestinal function but is associated with significant complications.[12] ARPKD patients with end-stage kidney disease who ultimately receive renal transplants can benefit from nephrectomies of their nonfunctional kidneys by making more room available for the new kidney and facilitating blood pressure control after transplantation.[5] (B3)

• #6 Autosomal recessive polycystic kidney disease | nidirect

  https://www.nidirect.gov.uk/conditions/autosomal-recessive-polycystic-kidney-disease

  There’s 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 ventilator (a machine that moves air in and out of the lungs) 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. […] If kidney failure does occur, there are two main treatment options: dialysis where a machine is used to replicate many functions of the kidney, kidney transplant where a healthy kidney is removed from a living or recently deceased donor and implanted into someone with kidney failure.

• #7 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Initial treatment may consist of respiratory support, fluid and electrolyte management (for hyponatremia or hyperkalemia), control of hypertension, nutritional support, bicarbonate or citrate supplements for metabolic acidosis, antibiotics for infections, and peritoneal dialysis if required.[5][7] […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. The use of recombinant human growth hormone appears to be safe and effective in promoting normal growth, which might otherwise be suppressed by uremia and reduced nutritional intake.[45]

• #8 Autosomal Recessive Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/19424

  Initial treatment may consist of respiratory support, fluid and electrolyte management (for hyponatremia or hyperkalemia), control of hypertension, nutritional support, bicarbonate or citrate supplements for metabolic acidosis, antibiotics for infections, and peritoneal dialysis if required.[5][7] […] Significant renal failure may induce hyperkalemia, while hyponatremia is often found in neonates with ARPKD. The hyponatremia is usually transient and treated with fluid restriction.[44] Patients with liver disease may need supplemental bile acids, endoscopic control of varices, or a portal vein shunting procedure. Renal replacement therapy, if indicated, can include hemodialysis or renal transplantation, but usually, peritoneal dialysis is preferred. Some patients may need nephrectomies to allow sufficient space for adequate peritoneal dialysis.(B3)

• #9 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia. […] Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment. […] Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with ARPKD. […] With better renal care, the course of children with ARPKD is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).

• #10 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  How do health care providers treat the complications of ARPKD? […] Kidney enlargement cannot be prevented or reversed. One or both kidneys may need to be removed if their size makes breathing impossible. Children who dont have working kidneys will need dialysis or a kidney transplant. […] A health care provider may treat growth failure with nutritional therapy. In severe cases of growth failure, a health care provider and a childs parents may consider treatment with human growth hormone. Human growth hormone is a prescribed, man-made hormone that can help children grow. […] Health care providers treat infants with breathing problems with artificial ventilation, which allows them to breathe with the help of a machine. […] Peritoneal dialysis is the preferred method of treating children with kidney failure, although health care providers also use hemodialysis. Kidney transplants may be a limited option for infants because of their size. […] If serious liver disease develops, some children may need to have a combined liver and kidney transplant. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #11 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  ARPKD patients who eventually receive renal transplants are at higher risk of death from cholangitis and biliary sepsis due to the required immunosuppressive drugs, which is a concern.[46] […] Hypertension is often severe, requiring multiple medications for control, starting with renin-angiotensin-aldosterone system (RAAS) blockers, which are usually the first-line treatments.[7] […] The ESCAPE trial (published in 2009) noted that children with stages 2 to 4 chronic kidney disease from all causes had improved renal function with aggressive blood pressure control.[12] […] Nutritional support can be highly beneficial in patients with ARPKD, particularly during the first two years after birth.[33][47] […] Liver disease requires rapid treatment of ascending cholangitis and may benefit from bile acid supplements, such as ursodeoxycholic acid, to help increase the natural hepatic biliary secretions and help minimize the development of cholelithiasis.[33]

• #12 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] If evidence of concentrating defects is observed in infants without significant renal insufficiency, thiazides may be useful. Bicarbonate supplements may be necessary for correction of metabolic acidosis. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections.

• #13 Treatment-Autosomal recessive polycystic kidney disease – Applied Medical Sciences

  https://ams.uokerbala.edu.iq/wp/en/blog/2025/03/25/treatment-autosomal-recessive-polycystic-kidney-disease/

  Theres currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the conditions associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function. […] There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure.

• #14 Treatment (3) | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/autosomal-recessive-polycystic-kidney-disease/treatment-3

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors and ARBs, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta-blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function. […] There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure.

• #15 Autosomal Recessive Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/19424

  The ESCAPE trial (published in 2009) noted that children with stages 2 to 4 chronic kidney disease from all causes had improved renal function with aggressive blood pressure control.[12](B3) […] Nutritional support can be highly beneficial in patients with ARPKD, particularly during the first two years after birth.[33][47] […] Liver disease requires rapid treatment of ascending cholangitis and may benefit from bile acid supplements, such as ursodeoxycholic acid, to help increase the natural hepatic biliary secretions and help minimize the development of cholelithiasis.[33] […] Dual organ transplants (liver and kidney), depending on the severity of portal hypertension and end-stage renal disease, have shown promising results in a significant number of cases and may be a consideration in selected patients.[47]

• #16 Autosomal Recessive Polycystic Kidney Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/autosomal-recessive-polycystic-kidney-disease/

  Babies who eventually receive a kidney transplant are at higher risk of bile duct infection and sepsis due to the required immune-suppressing drugs, therefore it is a concern. […] High blood pressure is often severe, requiring multiple medications for control. RAAS blockers are usually the first-line treatments. Other treatments can include beta-blockers, calcium channel blockers, dietary salt restriction, and diuretics when necessary to control the blood pressure. Hypertension usually appears before there is any clinical evidence of kidney failure and will affect 80% of children with this disease. It is usually easier to control hypertension after the first year of life. […] Nutrition is particularly beneficial during the first two years of life. It is especially important in children with significant portal hypertension and early kidney failure. Poor feeding can be due to the very enlarged kidneys putting pressure on the stomach and digestion. A growth hormone has been considered to promote growth and appears safe and effective.

• #17 Autosomal recessive polycystic kidney disease, PKHD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/autosomal-recessive-polycystic-kidney-disease-pkhd1-related/

  The initial concern with infants who have ARPKD is to protect their ability to breathe. Stabilizing respiratory function through mechanical ventilation may be required. Eating a nutritious diet can aid growth, and in some cases, growth hormones are recommended. Infants and children may require feeding tubes in order to ensure proper growth. […] If faced with kidney failure, people with ARPKD frequently undergo dialysis (a “cleansing” of the blood through a machine that removes waste) or kidney transplantation. If the liver is extremely damaged, transplantation of this organ may also be recommended. Some individuals with ARPKD must undergo dialysis or kidney transplantation in infancy. Treatments to minimize dehydration and medications to lower blood pressure and to treat urinary tract infections may also be necessary.

• #18 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Treatment-of-Polycystic-Kidney-Disease-(PKD).aspx

  In the autosomal recessive form (ARPKD) initial tests include: […] In infants, immediate care may include: […] Monitoring and correction of hyponatremia and dehydration, with feedings through nasogastric or gastronomy tubes […] Treatment of kidney disease including dialysis or kidney transplant […] Hepatic transplants or combined liver-kidney transplants for severe and progressive portal hypertension

• #19 Autosomal Recessive Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/19424

  Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. The use of recombinant human growth hormone appears to be safe and effective in promoting normal growth, which might otherwise be suppressed by uremia and reduced nutritional intake.[45] […] ARPKD patients who eventually receive renal transplants are at higher risk of death from cholangitis and biliary sepsis due to the required immunosuppressive drugs, which is a concern.[46] […] Hypertension is often severe, requiring multiple medications for control, starting with renin-angiotensin-aldosterone system (RAAS) blockers, which are usually the first-line treatments.[7]

• #20 Autosomal recessive polycystic kidney disease – Treatment | Health Information from Mediclinic Pharmacy

  https://mediclinicpharmacy.com/nhs_conditions_autosomal-recessive-polycystic-kidney-disease-arpkd_treatment

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] Many children with ARPKD also have problems affecting their liver, such as swelling and scarring. […] If your child’s condition progresses to a stage where their kidney function is significantly affected, they’ll usually need a number of different treatments to manage the various problems this can cause. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function. […] There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure.

• #21 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease treatment and management […] Management will depend on clinical severity, but may include: […] Stabilisation of respiratory function by mechanical ventilation. […] Rarely, unilateral or bilateral nephrectomy if massive kidney enlargement impairs movement of the diaphragm. […] Neonates with oliguria or anuria may require peritoneal dialysis within the first days of life. Early recognition and treatment of dehydration and hypertension is critical. […] Management of chronic kidney disease. […] Treatment of biliary dysfunction focuses on malabsorption of nutrients and fat-soluble vitamins and early recognition and treatment of ascending cholangitis. Treatment includes synthetic bile acids. […] In those with progressive portal hypertension, endoscopy with sclerotherapy or banding of varices may be required. Portosystemic shunting and/or consideration of liver transplantation may also be needed. […] Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation.

• #22 Autosomal Recessive Polycystic Kidney Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/autosomal-recessive-polycystic-kidney-disease/

  Liver disease requires fast treatment of an infection ascending the bile duct and may benefit from bile acid supplements. It helps increase the natural liver bile secretions and minimizes gallstone development. A treatment to block off varices might be needed in patients with progressive portal hypertension. In severe cases, a procedure to create a new pathway for blood to flow from the liver or a liver transplant may need to be considered. Preventive antibiotics are recommended by some experts. […] In some cases, depending on the severity of portal hypertension and end-stage kidney disease, transplants of both liver and kidney have shown promising results. […] Currently, a drug called tolvaptan is the only FDA-approved treatment for ADPKD, a similar disease, and it has proven effective in preserving kidney function. Clinical trials are being conducted to see if tolvaptan could be a potential treatment for ARPKD. Other possible treatments are being researched.

• #23

  https://111.wales.nhs.uk/kidneydisease,autosomalrecessivepolycystic/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: breathing difficulties caused by underdeveloped lungs (pulmonary hypoplasia), high blood pressure (hypertension), liver problems, chronic kidney disease (CKD) and kidney failure. […] If your child’s condition progresses to a stage where their kidney function is significantly affected, they’ll usually need a number of different treatments to manage the various problems this can cause. […] Most people with ARPKD will eventually develop kidney failure at some point in their life. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function. […] There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys, kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure.

• #24 Autosomal Recessive Polycystic Kidney Disease: A Guide

  https://resources.healthgrades.com/right-care/kidney-disease/autosomal-recessive-polycystic-kidney-disease

  Peritoneal dialysis: This procedure uses a membrane in the abdomen to filter toxins from the blood by diffusion. This means dialysis fluid goes into the body through a catheter, stays there for a specific period of time, and is then drained. You can learn to manage peritoneal dialysis at home. […] Kidney transplant: In some cases, people with ARPKD will need 1 or both kidneys replaced with new, healthy kidneys. Because the condition also causes liver dysfunction, kidney and liver transplants together can result in better outcomes. […] Researchers estimate that 50% of people with ARPKD will require kidney replacement therapy before the age of 20. […] Doctors may use artificial respiration to help manage breathing difficulties. Your baby may be connected to a ventilator, which is a machine that breathes for the child.

• #25

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] While early-onset kidney replacement therapy can be considered as an established treatment, the decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] Peritoneal dialysis can be applied in ARPKD but may require adaptations. […] Hypertension can be very pronounced in ARPKD requiring treatment with multiple pharmacological classes.

• #26 Autosomal Recessive Polycystic Kidney Disease: A Guide

  https://resources.healthgrades.com/right-care/kidney-disease/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is an inherited condition that causes cysts to develop in the kidneys early in life. Depending on which other organ systems are affected, treatment may involve dialysis, organ transplants, or artificial respiration. […] Treatment for ARPKD focuses on the organ systems affected. This can include regular testing and monitoring of blood pressure, cardiovascular health, and respiratory function. […] People with ARPKD commonly develop kidney failure. Treatment for kidney failure can include hemodialysis, peritoneal dialysis, or a kidney transplant. […] Hemodialysis: This procedure involves machinery that removes excess fluid, filters the blood, and returns it to the body. Hemodialysis can also occur in a clinic or at home once an adult has been trained.

• #27 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Dual organ transplants (liver and kidney), depending on the severity of portal hypertension and end-stage renal disease, have shown promising results in a significant number of cases and may be a consideration in selected patients.[47] […] Currently, tolvaptan, a vasopressin receptor antagonist, is the only FDA-approved treatment for ADPKD, and several large trials with long-term follow-up have demonstrated efficacy in preserving renal function.[3][48][49][50][51] Ongoing clinical trials are studying tolvaptan for the possible treatment of ARPKD.[35] Other possible therapies are under investigation.

• #28 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  High blood pressure is common in children with ARPKD. It’s important that it is treated, because high blood pressure can increase the risk of later cardiovascular problems including stroke and heart failure. High blood pressure can be difficult to treat. But with several different types of medication, it can be successfully controlled. […] If your child’s kidneys begin to fail or need to be removed to create space for other organs, your child will need a kidney transplant or dialysis. Dialysis is a way of artificially replacing some of the kidneys functions. […] If your child develops a urinary tract infection, they’ll need a course of antibiotics to treat this. […] If your child’s liver is only mildly affected, they might only need medication aimed at treating specific symptoms. He or she will need to be monitored by specialist liver doctors. If your child develops complications, they’ll need additional monitoring and treatment. For example, if your child develops a bile duct infection (cholangitis), he or she needs antibiotics to treat this. If your child is suffering from severe complications, their liver specialist might discuss the option of a liver transplant with you.

• #29 Autosomal Recessive Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/19424

  Currently, tolvaptan, a vasopressin receptor antagonist, is the only FDA-approved treatment for ADPKD, and several large trials with long-term follow-up have demonstrated efficacy in preserving renal function.[3][48][49][50][51] Ongoing clinical trials are studying tolvaptan for the possible treatment of ARPKD.[35] Other possible therapies are under investigation.(A1)

• #30 Available Treatment – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/living-with-pkd/treatments/

  It is not possible to know exactly how long tolvaptan may preserve kidney function. Clinical studies showed that the drug slowed the growth of cysts and preserved kidney function as compared to placebo. In patients with risk of rapid progression, it is estimated that each four years of tolvaptan treatment could delay the need for renal replacement therapy (dialysis or transplant) by one year. […] The first study for ARPKD is underway now, and if the early results are positive, the study will continue to the next phase of clinical trials.

• #31 A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

  https://www.mdpi.com/2077-0383/12/4/1428

  A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease […] Antisense oligonucleotides (ASOs) are short special oligonucleotides which function to regulate gene expression and alter mRNA splicing. […] We designed ASOs to verify whether ASOs mediate the correction of splicing further to treat ARPKD arising from splicing defects and explored them as a potential treatment option. […] ASOs are a potential drug for treating ARPKD patients harboring splicing mutations of the PKHD1 gene by correcting the splicing defects and increasing the expression of the normal PKHD1 gene. […] In this research, we attempted to ascertain novel exon-extending targets in PKHD1 by reporting the relationship between exons’ overexpressed patterns and the rescue of extended mRNA expression in cells.

• #32 A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

  https://www.mdpi.com/2077-0383/12/4/1428

  We showed that all ASOs targeting PKHD1’s Exon 21, to a great extent, restore the expression of the normal transcript in cells, indicating that these ASOs might be promising therapeutic agents in the treatment of ARPKD caused by Exon 21 splicing mutations of the PKHD1 gene. […] ASOs have been confirmed to specifically increase the expression of productive transcripts and reduce seizures and the incidence of SUDEP as a gene-specific treatment for Dravet syndrome and diastolic function in a murine heart failure model through the inhibition of RBM20 with ASOs in a recent study. […] Our results suggested that ASOs may be a new option for ARPKD patients with aberrant splicing, as all of the ASOs could effectively rescue the splicing abnormalities caused by the c.2141-3T>C mutation of the PKHD1 gene in vitro.

• #33 Regenerative Therapy in Autosomal Recessive Polycystic Kidney Disease

  https://www.mathewsopenaccess.com/full-text/regenerative-therapy-in-autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is a developmental disease that results from fibrocystin loss of function mutation. […] Restoration of the functions of FAK and 1 Na+/K+ATPase in the renal and biliary epithelia of ARPKD patients might be a future hope of recovery that could be achieved through the regenerative therapy, using stem cells that express myroslated FAK and 1 Na+/K+ ATPase subunit to slowdown or reverse cyst formation. […] However, achieving the size of 10 Kg is not an easy target in ARPKD patients, as the growing polycystic kidneys compress the lungs and the stomach, and contribute to false weight gain. Moreover, ARPKD is usually a combined disease that affects the kidneys and the liver, which might necessitate combined liver and kidney transplantation. […] Accordingly, endovascular administration of MSCs into the renal arteries might constitute a promising therapeutic strategy.

• #34 ARPKD – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/

  Receiving an ARPKD diagnosis can feel overwhelming and frightening, especially knowing that it can sometimes be life-threatening in the first month. However, theres hope: nearly 80% of children with ARPKD survive the newborn stage. […] While about one-third of these children may need a transplant or dialysis within the first 10 years, theres no need to be pessimistic. […] The outlook for ARPKD has improved significantly its no longer considered a fatal condition. Just 20 years ago, only half the children with this disease lived to see their 10th birthday. Today, more than 90% of children who survive the newborn period reach their 20th birthday, and half of them still havent needed dialysis or a transplant. […] How do I find up to date information on treating PKD? Get the latest information on treating PKD with UpToDate.

• #35 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  There are currently no treatments that can cure or slow the progression of ARPKD. Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] A newborn baby with breathing difficulties may need treatment in a paediatric intensive care unit and be placed on a ventilator to help them to breathe. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] One in 10 children will need a liver transplant or a joint liver and kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #36 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] By age 10, about 6 in every 10 children with ARPKD needs dialysis or a kidney transplant, and 1 in 10 needs a liver transplant (or joint kidney and liver transplant). These procedures come with some risks – make sure that your child’s treatment team explains these to you fully. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

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