PKD Digest Cystic kidney disease · Weekly

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  1. Hepatic manifestations of ciliopathies: genetic causes and clinical update

    Plain language

    Ciliopathies are inherited conditions caused by faults in cilia, tiny antenna-like structures on cells. Many of them, including ARPKD and ADPKD, can affect the liver as well as the kidneys. This review explains how faulty cilia disturb the development of the liver's bile ducts and describes the main liver patterns: scarring of the liver and high pressure in its blood vessels in ARPKD, liver cysts in ADPKD, which usually appear in adulthood, and other patterns in rarer syndromes. Genetic testing with large gene panels or genome sequencing is increasingly used to find the cause. It is a review of existing knowledge, not a new study.

    Question for your next visit

    Should my child's liver be checked as well as their kidneys, and how often?

  2. Analysis of brain iron deposition in an in vivo model of pediatric autosomal dominant polycystic kidney disease

    Plain language

    Kidney disease that starts early in life has been linked to problems with thinking and learning, and to changes in how the body handles iron. This study used young mice with a form of PKD that causes severe kidney disease within weeks of birth. Brain scans and tissue staining showed more iron in several brain areas than in healthy mice, although brain size was the same. This is an animal study; it does not show that the same happens in children, and it gives researchers a model to study the question.

    Question for your next visit

    Is there anything we should watch for in our child's learning or development, given their kidney condition?

  3. Kidney Transcatheter Arterial Embolization Reduces Kidney Cyst Infection in Patients With ADPKD

    Plain language

    Kidney cyst infections are a serious complication of ADPKD. This study looked back at the records of 416 people with ADPKD who had kidney arterial embolization, a procedure that blocks blood vessels inside the kidney through a thin tube so that the kidney shrinks. After the procedure, cyst infections became about three times less frequent, and people who had had infections before spent fewer days in hospital. The benefit was larger when the kidney shrank more. The study compared each person before and after the procedure, so it cannot prove the procedure caused the drop. Whether this procedure suits anyone depends on their own situation and their care team.

    Question for your next visit

    If I keep getting kidney cyst infections, what options are there besides antibiotics, and could any of them suit me?

  4. RhoA through its various effectors mediate mitochondrial fragmentation in polycystic kidney disease

    Plain language

    Mitochondria are the parts of a cell that make energy. In PKD they tend to break into small pieces, and this study looked at why. In kidney cells that had lost the PKD proteins, a switch-like protein called RhoA drove this breaking up. Blocking RhoA, or the proteins it acts through, prevented or reversed it, including in cells from people with PKD. The broken-up mitochondria also encouraged scarring processes. This is laboratory research on cells; no treatment based on it exists yet.

    Question for your next visit

    How do researchers decide which laboratory findings are worth testing as treatments for PKD?

  5. Healthcare burden and clinical spectrum of symptomatic polycystic liver disease in Japan: a nationwide epidemiological survey

    Plain language

    Many people with polycystic liver disease have no symptoms, but some develop a swollen belly, pain or infected liver cysts. A nationwide survey of hospital departments in Japan estimated that about 3,570 people were being treated or followed for symptomatic polycystic liver disease in 2023, around 29 per million people. Among 557 patients with detailed data, most were women and about two thirds also had polycystic kidney disease. More than half had treatment for their liver cysts, and many needed care from more than one department or hospital. The study describes the condition in one country; it does not test treatments.

    Question for your next visit

    I have cysts in my liver as well as my kidneys. Which symptoms should make me contact my team?

  6. Apelin Inhibits Cyst Growth and Improves Kidney Function in Mice with Polycystic Kidney Disease

    Plain language

    Apelin is a natural hormone involved in blood pressure and heart function. Children and young adults with ADPKD had lower apelin levels than healthy peers, even with normal kidney function. Giving apelin to mice with PKD shrank their kidneys and cysts and improved kidney function, similar to a tolvaptan-like drug but without causing heavy urination. This is early animal research; no apelin-based treatment exists for people yet.

    Question for your next visit

    If tolvaptan’s side effects are hard for me, are there clinical trials of other approaches that I could be considered for?

  7. Development of a prediction model for aneurysmal events to guide imaging surveillance in autosomal dominant polycystic kidney disease

    Plain language

    People with ADPKD are more likely to have brain aneurysms, but there is no agreed plan for how often to re-scan small, untreated ones. Two Japanese centres built a simple 4-point score using three facts: having more than one aneurysm, high blood pressure, and a family history of ADPKD. Over 5 years, no one in the low-risk group had an aneurysm grow, change or bleed, versus nearly half in the high-risk group. It needs testing elsewhere before routine use.

    Question for your next visit

    If I have a small brain aneurysm, how would my number of aneurysms, blood pressure and family history affect how often I should be scanned?

  8. Mediation Analysis of Urine Osmolality and Response to Tolvaptan in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Assessment

    Plain language

    Tolvaptan makes urine more dilute. Re-analysing the large TEMPO 3:4 trial, researchers asked whether how much urine concentration drops in the first 3 weeks predicts long-term benefit. In non-Japanese participants, a bigger early drop went with better kidney function at 3 years; in the smaller Japanese group, the link was not clear. Either way, tolvaptan slowed kidney growth in both groups. A simple urine test might one day help gauge response.

    Question for your next visit

    If I take tolvaptan, would checking my urine concentration early on help us understand whether it is working for me?

  9. Prevalence of unruptured intracranial aneurysms according to comorbidities, risk factors, country, and time period: a systematic review and meta-analysis

    Plain language

    A Lancet Neurology review pooled many studies and found unruptured brain aneurysms in about 13% of people with ADPKD who were scanned — roughly four times a reference group without major risk factors (~4%). That supports personalized screening talks with your care team, alongside blood-pressure and smoking control — it is not a call for everyone to get the same scan schedule.

    Question for your next visit

    Given my ADPKD and family history, what are the possible benefits and downsides of checking for a brain aneurysm?

  10. The Polycystic Kidney Disease Cyst Transcriptome Defined by Integrating Spatial, Single Nuclear, and Bulk Transcriptomics

    Plain language

    Researchers mapped which genes are switched on inside kidney cysts while keeping track of where each cyst sits in the tissue. They used kidney tissue from people with ADPKD and combined three ways of reading gene activity. Cyst cells showed signals that may be linked to scarring, inflammation and low oxygen, and to growth pathways already known in PKD. The team also picked out a gene, musculin, that marks cyst cells. This is laboratory research meant to guide future studies; it does not change care today.

    Question for your next visit

    Is any of the research on what makes cysts grow close to being tested in people?

  11. The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts

    Plain language

    Polycystic liver disease can run in families through changes in at least seven genes, which can also cause a few kidney cysts but rarely kidney failure. Using large public gene databases, researchers estimated that roughly 1 in 91 to 1 in 130 people carry a likely harmful change in one of these genes, more often in some ancestries. Many carriers never develop liver or kidney cysts, so a positive result needs careful interpretation.

    Question for your next visit

    If a gene panel finds a variant linked to polycystic liver disease, what does it mean for me and my relatives if we have few or no cysts?

  12. A rapid automated segmentation method for total kidney volume measurement on unenhanced computed tomography in autosomal dominant polycystic kidney disease

    Plain language

    Total kidney volume helps doctors judge how fast ADPKD may progress, but measuring it by hand on scans takes experts about 30 minutes. A computer program measured it from CT scans without contrast dye in about 5 seconds, matching the experts almost exactly, including when kidney growth was tracked over time. It still needs testing in other hospitals, but it could make this measurement easier to get.

    Question for your next visit

    Has my total kidney volume been measured, and could an existing scan be used to estimate my Mayo risk class?

  13. Novel human neutralizing monoclonal antibodies against Pregnancy-Associated Plasma Protein A for the treatment of Autosomal Dominant Polycystic Kidney Disease

    Plain language

    PAPP-A is a protein that frees a growth signal called IGF-1, and polycystic kidneys have more of it. Researchers made new human antibodies that block PAPP-A and tested them in two mouse models of PKD, one with advanced and one with early disease. In male mice, all doses tested reduced cyst disease, inflammation and scarring in the kidney. In one of the models, female mice were protected less than males. These are mouse results; the authors say the difference between sexes should be taken into account when planning trials in people.

    Question for your next visit

    How do researchers check that a medicine that works in mice is safe to test in people?

  14. Large-scale organoid-derived cyst cultures as a drug discovery platform for polycystic kidney disease

    Plain language

    Organoids are tiny structures grown in the lab from stem cells that copy parts of an organ. Researchers developed a way to grow thousands of kidney organoids that form cysts like those in ADPKD, so that many possible drugs can be tested at once. The cysts responded to some experimental compounds but not to tolvaptan, which the authors linked to the organoids having little of the receptor that tolvaptan acts on. Testing a small set of compounds pointed to TLR4, a protein involved in the immune response, as a possible target. This is a laboratory tool for finding drug candidates; none of these compounds is a treatment for people.

    Question for your next visit

    Are there clinical trials for ADPKD that are testing new kinds of medicines?

  15. Pkd1 Deficiency Causes Intrinsic Renal Circadian Clock Dysfunction

    Plain language

    The body runs on an internal 24-hour clock, and organs such as the kidney have their own clocks too. In mice with PKD, the daily rhythm of drinking and passing urine became more disrupted as cysts grew. In cystic kidneys, the clock genes swung less and fell out of step, and losing the PKD1 gene also weakened the clock in kidney cells grown in the lab. This suggests PKD1 matters for the kidney's own clock, although the authors say more work is needed to separate direct effects from changes caused by the cysts. This is animal and cell research.

    Question for your next visit

    Does my daily routine, such as sleep or when I drink fluids, matter for my kidneys?

  16. CFTR correctors suppress Ca²⁺-cAMP signaling and cyst growth in primary cultures of ARPKD cholangiocytes

    Plain language

    Recessive PKD (ARPKD) affects both the kidneys and the liver’s bile ducts, and there is no targeted treatment for the liver part. In bile-duct cells from mice with ARPKD, two cystic fibrosis medicines that help the CFTR protein work (CFTR correctors) calmed overactive cell signals and reduced cyst growth. Because these medicines are already approved for cystic fibrosis, this is a lead worth studying, but it has only been tested on cells in the lab.

    Question for your next visit

    For my child with ARPKD, how is the liver being monitored, and are there research studies on liver treatments we should know about?

  17. An integrin beta-1-anchored bicaudal C1-polycystin-1 module essential for tubular morphogenesis in polycystic kidney disease.

    Plain language

    Scientists found a protein team — integrin-beta1, BICC1 and polycystin-1 — that keeps kidney tube cells gripping their surroundings correctly. When any part breaks, cells stiffen, grip less and cysts can form. Lab work only, no treatment yet.

    Question for your next visit

    How can I tell whether a finding about proteins and cysts has been tested in people or is still only laboratory research?

  18. Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort

    Plain language

    Some people with ADPKD only need dialysis or a transplant late in life, which often points to the milder PKD2 form. In six Greek patients who started kidney replacement after age 70, standard gene reading found some causes, but one large missing piece of the PKD2 gene only showed up with an extra test called MLPA. If a genetic test found nothing, ask whether this kind of test for missing or duplicated gene pieces was included.

    Question for your next visit

    If my genetic test did not find a cause, did it look for missing or duplicated sections of PKD1 and PKD2, and is retesting worthwhile?

  19. From phenotypic screening to target and compound prioritization for autosomal dominant polycystic kidney disease

    Plain language

    Scientists tested thousands of compounds on lab-grown mini cysts made from kidney cells, then used computer tools to work out which body targets the active compounds hit. Blocking a sugar transporter (GLUT1) and switching on an adenosine receptor (A1) reduced cyst swelling, and one existing blood-pressure drug, esaxerenone, also did. This is early lab work that points to new research leads, not new treatments.

    Question for your next visit

    How long does it usually take for a lab finding like this to reach a clinical trial, and are there trials I could follow?

  20. Nephrectomy in Kidney Transplant Candidates With Autosomal Dominant Polycystic Kidney Disease

    Plain language

    Before or after a kidney transplant, some people with ADPKD have one or both of their own kidneys removed. At one transplant centre, 79 of 109 people with ADPKD had this surgery, most often before the transplant and on both sides, mainly to make room for the new kidney; infection, pain and bleeding cysts were other reasons. Removing both kidneys before transplant accounted for most surgical complications. Whether, when and which side should be decided case by case.

    Question for your next visit

    If I am heading towards a transplant, do my kidneys look large enough or troublesome enough that removing one or both might be needed, and when?

  21. CDK4/6 Inhibitor Abemaciclib Arrests and Reverses Kidney Cyst Progression in Preclinical Models of Autosomal Dominant Polycystic Kidney Disease

    Plain language

    Abemaciclib is a breast-cancer pill. In mice with an ADPKD gene change, low daily doses slowed cyst growth more than tolvaptan, and in later-stage disease it halted cyst growth in females and shrank cysts in males, without obvious side effects. It seems to work by restoring polycystin proteins on the cell’s antenna (cilium). This is animal and lab work only: it has not been tested in people with ADPKD, so it is not a treatment option today.

    Question for your next visit

    When a cancer medicine shrinks cysts in mice, what steps would still be needed before it could be offered to someone like me?

  22. Congenital biliary abnormalities in adults: a practical CT and MRI guide

    Plain language

    This radiology guide explains how CT and MRI scans tell apart bile-duct conditions people are born with, including the liver cysts of polycystic liver disease and Caroli disease, which can occur with recessive PKD (ARPKD). The cysts of polycystic liver disease do not connect to the bile ducts and carry very little cancer risk, while some other bile-duct malformations need closer watching. Knowing which condition you have shapes how often you need scans.

    Question for your next visit

    Do my liver cysts connect to the bile ducts, and does that change how often I need scans?

  23. Validation of Prognostic Tools for Autosomal Dominant Polycystic Kidney Disease Progression in a Multiethnic South African Cohort

    Plain language

    In a multiethnic South African ADPKD group, doctors tested simple bedside clues — age, sex, early high blood pressure, urinary events, and ultrasound kidney length — when MRI and genetic tests were hard to get. Those clinical tools still helped spot who was more likely to reach kidney failure, especially among Black patients. Where Mayo imaging class and MRI are available, they remain the preferred risk tools.

    Question for your next visit

    If MRI or genetic testing is not available to me, what can my history and ultrasound tell us about my kidney risk, and what remains uncertain?

  24. The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease

    Plain language

    Genetic tests sometimes find a gene change of ‘uncertain significance’, which cannot yet be used for decisions. In a large family with 14 affected members over three generations, researchers checked who carried a new PKD1 change and who had ADPKD. The change tracked with the disease, so it was upgraded to ‘likely disease-causing’. That let the family use embryo genetic testing (PGT) in IVF. Testing relatives can turn an unclear result into a usable one.

    Question for your next visit

    If my genetic result shows a variant of uncertain significance, could testing my relatives help clarify it, and what would that involve for them?

  25. Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER

    Plain language

    People with rare liver conditions, including polycystic liver disease, often face slow diagnosis and scattered care. The European reference network for rare liver diseases, working with patients and patient groups, built a template for clear care pathways: before diagnosis, at diagnosis, during treatment and over the long term. Each pathway includes plain explanations, common questions and ‘10 key questions’ to discuss with your doctors. Polycystic liver disease is one of the first worked examples.

    Question for your next visit

    Is there a specialist liver centre or patient pathway for polycystic liver disease that I could be referred to?

  26. Assessment of Interleukin-15 (IL-15) Concentration in Children with Cystic Kidney Disease

    Plain language

    IL-15 is a signalling molecule of the immune system. In 47 children with cystic kidney disease and 41 without, IL-15 levels in blood and urine were higher in the children with cysts, even when their kidney function was still normal. That hints at early inflammation-related activity in cystic kidneys. It is a small first study, and IL-15 is not a test used in care.

    Question for your next visit

    Which tests are most useful for following my child’s cystic kidney disease while kidney function is still normal?

  27. Increased risk of incident and recurrent urinary tract infection in autosomal dominant polycystic kidney disease: a contemporary propensity score-matched cohort study

    Plain language

    In a large Taiwanese matched study, about 18% of adults with ADPKD got a urinary tract infection over follow-up versus about 16% of similar people without cystic kidney disease — a modest absolute rise, but the risk of first and repeat UTIs was still higher, especially in men and in more advanced CKD. Worth watching symptoms early and talking prevention with your clinicians.

    Question for your next visit

    Which urinary infection symptoms should I report promptly, and what prevention steps fit my kidney health?

  28. Association Between Tolvaptan Exposure and Venous Thromboembolism Risk in ADPKD: A Real-World Propensity-Matched EHR Study

    Plain language

    Blood clots in the veins seem a little more common in people with ADPKD. Using health records from about 39,000 adults, researchers compared people who took tolvaptan with closely matched people who did not. Those on tolvaptan had fewer clots (about 2 in 100 vs 4 in 100) and fewer deaths. But this kind of study cannot prove the medicine caused the difference — people prescribed tolvaptan may simply differ in other ways.

    Question for your next visit

    Does ADPKD change my risk of blood clots, and is there anything about my treatment or daily habits that matters for that risk?

  29. Kidney outcomes and safety of sodium-glucose cotransporter-2 inhibitor therapy in autosomal dominant polycystic kidney disease: systematic review and meta-analysis.

    Plain language

    Diabetes drugs that protect kidneys (SGLT2 inhibitors) were never properly tested in ADPKD — those patients were left out of the big trials. Pooling six small studies (451 patients), kidney decline slowed a little in year one, with no clear effect on kidney size. Promising but thin evidence.

    Question for your next visit

    What do we know and not yet know about the benefits and risks of SGLT2 medicines for someone with my type of kidney disease?

  30. Baseline hematuria in autosomal dominant polycystic kidney disease

    Plain language

    Blood in the urine is common in ADPKD. One clinic followed 173 people for up to 20 years and found that those who had blood in their urine early on — visible, or only seen under the microscope — lost kidney function faster and reached kidney failure sooner. It was not linked to bigger kidneys, so it may add information that kidney-size scans miss. Tell your team about any episode of red or dark urine.

    Question for your next visit

    Have my urine tests ever shown blood, and does that change how you judge my risk of faster kidney decline?

  31. From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.

    Plain language

    Genetic testing can clarify ADPKD, but test kits must prove they read every gene region reliably. A 16-sample pilot of a 28-gene kit read almost everything well — except PKD1 exon 1 and duplicated stretches. Panels need this kind of validation before routine use.

    Question for your next visit

    If I have genetic testing for kidney cysts, what can the test miss and how would an unclear result be explained to me?

  32. The fibrocystin C-terminal domain inhibits Src/STAT3 signal induced cystogenesis of kidney epithelial cells.

    Plain language

    In recessive PKD, a broken fibrocystin protein lets kidney cells overreact through a Src/STAT3 signal, filling with fluid. Lab-grown kidney cells show the tail end of fibrocystin puts the brakes on — a possible future drug target. Cells in dishes, not patients.

    Question for your next visit

    For my family member with recessive PKD, what would need to happen before a finding about fibrocystin could become a treatment tested in people?

  33. Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.

    Plain language

    Greek doctors followed 20 children with HNF1B-related cystic kidney disease: almost all had cysts, most carried large gene deletions, and average kidney function held steady over five years — though individual children varied early. Lifelong follow-up still needed.

    Question for your next visit

    For my child with HNF1B-related kidney disease, which kidney and blood tests should we review as they grow?

  34. Nationwide attribute-based cross-classification reveals distinct risk patterns of major complications in ADPKD.

    Plain language

    Sifting records of 12,466 ADPKD patients, researchers mapped which complications cluster together: liver cysts in 86%, kidney pain in 30%, aneurysms in 18.5% — with different patterns by sex, age and blood pressure. A step toward screening the right people, not everyone equally.

    Question for your next visit

    How do my age, blood pressure and symptoms help you decide which complications of ADPKD to check for?

  35. Obstetric outcomes in pregnancies complicated by polycystic kidney disease

    Plain language

    Using U.S. hospital data from 2016–2021, pregnancies coded with polycystic kidney disease had more cesarean births and complications such as preeclampsia, gestational diabetes, anemia, urinary infections, acute kidney injury, and preterm birth than pregnancies without PKD. Planned high-risk obstetric and kidney care matters — and coding can mix different cystic kidney types.

    Question for your next visit

    If I am planning a pregnancy, how should my kidney team and maternity team coordinate my care?

  36. Targeted analysis of salicylate binding partners in renal epithelial cells reveals major AMPK dependency.

    Plain language

    An old anti-inflammatory ingredient (salicylate, from salsalate) slows cyst growth in lab models — but how? In ADPKD kidney cells, almost all of the effect runs through the AMPK energy switch, though one or two side effects do not. Drug clues, not a treatment.

    Question for your next visit

    Why do laboratory findings about salicylate not yet tell us whether it is safe or helpful for my ADPKD?

  37. AI Structural Biology in Nephrology: Powerful Scaffolds, Fragile Certainties.

    Plain language

    AI tools that predict protein shapes (AlphaFold and RoseTTAFold) now give kidney researchers 3D models of proteins that were once black boxes, helping explain inherited diseases like ADPKD. But the models can look more certain than they really are — especially for complex membrane proteins — and they show frozen snapshots of moving parts.

    Question for your next visit

    If a computer model is used to explain my genetic result, what other evidence is needed before it can guide my care?

  38. Factors associated with cerebrovascular complications in a cohort of patients with autosomal dominant polycystic kidney disease in South Africa.

    Plain language

    Reviewing 298 patient files at a South African hospital, doctors found brain-vessel complications in about 1 in 20 ADPKD patients — aneurysms in 3%, half of them ruptured, mostly men around 45. African data is scarce, so these numbers help fill a real gap.

    Question for your next visit

    Which parts of my personal and family history matter when we discuss the risk of brain blood-vessel problems with ADPKD?

  39. Global Perspectives in Autosomal Dominant Polycystic Kidney Disease: Mexico.

    Plain language

    Part of a series describing how ADPKD care works around the world — this stop: Mexico. Useful context on how diagnosis, treatment access and follow-up differ by country.

    Question for your next visit

    Which ADPKD care options are available locally, and who can help me if access or cost is a barrier?

  40. Autosomal Dominant Polycystic Kidney Disease Presenting as a Painless Epigastric Mass: A Case Report.

    Plain language

    A 62-year-old woman came in with a painless lump in the upper belly — it turned out to be ADPKD with liver cysts, even with no family history. A reminder that ADPKD can disguise itself as other abdominal conditions.

    Question for your next visit

    If I have kidney and liver cysts but no known family history, how would you check whether I have an inherited condition?

  41. Downstream-Aware Automated QC of Images and AI-Generated Segmentations.

    Plain language

    Measuring total kidney volume from MRI scans guides ADPKD care, but someone must check each scan is good enough — a slow manual job. An AI trained on nearly 10,749 scans learned to sort them into use, redo or reject, agreeing with human checks about four times in five.

    Question for your next visit

    Who checks the quality of my kidney scan and any computer-generated measurements before they are used in my care?

  42. Polycystic Kidney Disease-Related Mortality in the US (1999-2024): A Nationwide Joinpoint Analysis of Trends, Disparities, and Comorbidity Structure

    Plain language

    Looking at 25 years of US death certificates, researchers found that deaths linked to polycystic kidney disease fell from 1999 to 2013 and have risen again since. The rise was steepest among Black Americans. Over time, death certificates mentioned kidney failure less often and high blood pressure more often. These are population trends, not personal risk, and they do not explain why the reversal happened.

    Question for your next visit

    Which parts of my care, such as blood-pressure control, matter most for my long-term health with PKD?

  43. Quantitative analysis of d-amino acids in renal samples using derivatization.

    Plain language

    A new lab method measures mirror-image amino acids in blood, urine and cyst fluid. As kidney disease worsened, one of them (d-serine) rose in blood and fell in urine — a possible future warning signal. Very early, method-stage science.

    Question for your next visit

    Which tests are currently reliable for monitoring my kidney function, and how do they differ from experimental markers such as d-serine?

  44. Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.

    Plain language

    Why does the same PKD mutation hit one sibling hard and another mildly? A review argues genes plus environment shape the outcome — and that humble fruit flies, with fast generations and shared pathways, could help untangle it. Ideas stage, no patient impact yet.

    Question for your next visit

    Why might my kidney disease progress differently from a relative with the same genetic change, and how will we monitor my own course?

  45. Combining Cystatin C and Creatinine Increases eGFR Slope Accuracy in ADPKD

    Plain language

    Kidney function is usually estimated from one blood marker, creatinine. In 260 Dutch people with ADPKD, adding a second marker, cystatin C, tracked the true change in kidney function over time more closely than creatinine alone. That steadier signal could let future drug trials work with about a third fewer participants. For now it mainly matters for research, but it is a test you can ask your team about.

    Question for your next visit

    Would measuring cystatin C as well as creatinine give a clearer picture of how my kidney function is changing?

  46. Scoping Review on Polycystic Liver Disease in PKD1/PKD2 Gene Carriers: Genetic Aspects, Pathophysiology, and Therapeutic Approaches

    Plain language

    A review of 29 studies on polycystic liver disease in people with PKD1 or PKD2 variants explains why liver cysts can grow with kidney cysts, how genetics may relate to severity, and which treatments help selected patients with bothersome liver size. Somatostatin-type medicines remain the main drug approach discussed; other options such as mTOR inhibitors look mixed.

    Question for your next visit

    If my liver cysts cause discomfort or fullness, how do we decide whether I need a specialist assessment or treatment?

  47. KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for Autosomal Dominant Polycystic Kidney Disease

    Plain language

    U.S. kidney experts (KDOQI) walk through the international KDIGO 2025 ADPKD guideline and what it means for everyday care in the United States — from diagnosis and imaging to treatment choices. Helpful when comparing global recommendations with what your local clinic can offer.

    Question for your next visit

    Which parts of the international ADPKD care recommendations apply to me, given the tests and treatments available here?

  48. Autosomal dominant polycystic kidney disease in children and adolescents

    Plain language

    ADPKD is usually thought of as an adult disease, but cysts often start before birth. Most children with ADPKD feel well, yet 20–40% have high blood pressure, and some leak protein in their urine. Both can be treated early. This review recommends regular blood-pressure checks, blood-pressure medicines when needed, less salt and good hydration. Ultrasound is the usual test, with genetic testing for very early or unusual cases.

    Question for your next visit

    Should my child, who may have inherited ADPKD, have regular blood-pressure and urine checks, and from what age?

  49. Limitations of MELD in Isolated Polycystic Liver Disease: Fatal Traumatic Cyst Rupture Complicated by Abdominal Compartment Syndrome.

    Plain language

    A man whose liver was crowded with cysts but whose blood tests looked fine scored too low for a liver transplant. After wasting away he was listed — then a bump burst a cyst and he died. MELD scores can miss real suffering in polycystic liver disease; repeat checks matter.

    Question for your next visit

    If liver cysts affect my eating, weight or daily activities despite normal blood tests, how will you assess their impact?

  50. Prognostic Performance of Ellipsoid Kidney Volume Measurement in a Computed Tomography-Heavy ADPKD Cohort: A Retrospective Observational Cohort Study.

    Plain language

    Deciding who qualifies for tolvaptan hinges on precise kidney measurements — usually traced by hand on scans. In 151 Canadian patients, a quick ellipsoid formula on mostly CT scans matched hand-tracing well enough to flag high-risk disease. Handy where MRI is scarce.

    Question for your next visit

    How was my kidney size measured, and could uncertainty in that measurement affect discussions about my risk or treatment options?