Kidney International Reports, Journal Year: 2024, Volume and Issue: 10(3), P. 673 - 695
Published: Dec. 28, 2024
Language: Английский
Kidney International Reports, Journal Year: 2025, Volume and Issue: 10(3), P. 629 - 636
Published: March 1, 2025
Language: Английский
Citations
1
JAMA, Journal Year: 2025, Volume and Issue: unknown
Published: March 24, 2025
Importance Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of cysts and the most common inherited disorder worldwide. ADPKD accounts for 5% to 10% failure in US Europe, its prevalence 9.3 per 10 000 individuals. Observations typically diagnosed individuals aged 27 42 years primarily caused pathogenic variants PKD1 (78%) or PKD2 (15%) genes. Most persons with have an affected parent, but de novo suggested 25% families. More than 90% patients older 35 hepatic cysts, which may cause abdominal discomfort occasionally require medical surgical intervention. Hypertension affects 70% 80% ADPKD, approximately 9% 14% develop intracranial aneurysms, a rupture rate 0.57 1000 patient-years. Approximately 50% replacement therapy 62 age. The severity can be quantified using Mayo Imaging Classification (MIC), stratifies based on total volume adjusted height age ranges from 1A 1E. Patients MIC 1C 1E larger kidneys because more rapid growth (6%-10% year) compared those 1B (1%-5% earlier progression therapy, occurs at mean 58.4 1C, 52.5 1D, 43.4 Optimal management includes systolic blood pressure lower 120 mm Hg patients, 110/75 who estimated glomerular filtration (eGFR) greater 60 mL/min/1.73 m 2 are younger 50 years, dietary sodium restriction (<2000 mg/d), weight management, adequate hydration (>2.5 L daily). vasopressin type receptor antagonist tolvaptan reduces annual eGFR decline 0.98 1.27 indicated 3 year slow delay onset failure. Conclusion genetic worldwide cysts. hypertension liver aneurysms. First-line treatment control, hydration. Tolvaptan high risk
Language: Английский
Citations
1
Transplantation, Journal Year: 2025, Volume and Issue: unknown
Published: Jan. 14, 2025
Transplantation is the optimal and desired form of kidney replacement therapy, but all too often, clinicians are left pondering, "What led to failure in first place?" Further questions then naturally arise as whether a patient's relative might be able safely feasibly donate them, moreover what risks associated with this be. These key quandaries faced by nephrologists seeking provide care for their patients leading up transplantation. Recent advancements genomic sequence-based genetic testing have demonstrated effectiveness emerging utility providing some answers, only right setting, close support counselors clinical geneticists. Studies show that cause disease may identified 10%–25% failure.1,2 Various institutes retrospectively investigated yield transplant candidates, additionally examining potential diagnoses living donors. Despite this, knowledge gap remains around magnitude space evidence required inform frame practice. Abualrub et al3 363 transplantation evaluation clinic cohort, 117 included study meeting criteria. were candidates risk factors such early onset disease, positive family history (first-degree disease), cystic alternative complement pathway diseases, unknown disease. Of these patients, 111 underwent clinically accredited using whole exome sequencing broad virtual gene panel applied, which resulted diagnostic almost 50% (52/111 patients; 46.9%). There was 57.7% identification APOL1 high-risk variants (30/52), highlights an at-risk population study, different from other parts world. Critically, they 6 donor who, after testing, 1 candidate being excluded proceeding donation. This new information begins transition practice informed qualitative approximations quantitative more specific estimate. Contextualizing findings, Nissaisorakarn al4 reported pathogenic variant 30% tested cohort 83 (25/83), alleles found 11.44% patients. In terms donors who 2 17 (11.8%) variant, rendering them unable proceed Singh al5 finding 32.3% (10/31), causative genes APOL1, CFI, COL4A4, PKD2. APOL1-associated nephropathy or still evolving area, no set recommendations about whom test this. The National Kidney Foundation Working group has provided opinion "APOL1 should assessments chronic offered having manifestation biopsy findings suspected related regardless race ethnicity."6 A strength byAbualrub it genomically indicative none had known diagnosis begin with. Six also on basis recipients' variants, emphasizes not every undergo important those whose recipient through own test. direct implications cost-saving strategies curbing unnecessary concerns among (and recipients). One difference compared others inclusion ages, opposed younger than 50 y Australian population7 even (younger 30 y) Spanish population.8 65% partly explained 70% children origin.9 underrepresented MUC1 possibly disease-causing yet been discovered. Nevertheless, identifies 61.5% (16/26) intrinsically valuable, highlighting importance predisposition disease.10 Following prudent include design guidelines aid identifying benefit testing. Other require incorporation diseases phenotypes, clearly depicted al.3 high carefully selected can transformative services issue remain vigilant upon applicability areas outside North America where prevalent general population. With development future cohesive recommendations, better fulsomely use tool identify underlying especially recipients and, turn, However, updates implementation must supplemented partnership involvement health professionals geneticists ensure adequate understanding patients' diagnosis, including generations come.
Language: Английский
Citations
0
Kidney International, Journal Year: 2025, Volume and Issue: 107(3), P. 370 - 377
Published: Feb. 19, 2025
Language: Английский
Citations
0
Nephrology and Dialysis, Journal Year: 2025, Volume and Issue: 27(1), P. 9 - 19
Published: March 22, 2025
Early identification of kidney disease can protect health, prevent progression and related complications, reduce cardiovascular risk, decrease mortality. We must ask “Are your kidneys ok?” using serum creatinine to estimate function urine albumin assess for endothelial damage. Evaluation causes risk factors chronic (CKD) includes testing diabetes measurement blood pressure body mass index. This World Kidney Day we assert that case-finding in high-risk populations, or even population level screening, the burden globally. Early-stage CKD is asymptomatic simple test for, recent paradigm shifting treatments such as sodium glucose co-transporter-2 inhibitors dramatically improve outcomes favor cost-benefit analysis screening programs. Despite this, numerous barriers exist, including resource allocation, health care funding, infrastructure, professional awareness disease. Coordinated efforts by major nongovernmental organizations prioritize agenda governments aligning early detection with other current programs will maximize efficiencies.
Language: Английский
Citations
0
Nephrology (Saint-Petersburg), Journal Year: 2025, Volume and Issue: 29(1), P. 9 - 18
Published: March 31, 2025
Early identification of kidney disease can protect health, prevent progression and related complications, reduce cardiovascular risk, decrease mortality. We must ask “Are your kidneys ok?” using serum creatinine to estimate function urine albumin assess for endothelial damage. Evaluation causes risk factors chronic (CKD) includes testing diabetes measurement blood pressure body mass index. This World Kidney Day we assert that case-finding in high-risk populations, or even population level screening, the burden globally. Early-stage CKD is asymptomatic simple test for, recent paradigm shifting treatments such as sodium glucose co-transporter-2 inhibitors dramatically improve outcomes favor cost-benefit analysis screening programs. Despite this, numerous barriers exist, including resource allocation, health care funding, infrastructure, professional awareness disease. Coordinated efforts by major nongovernmental organizations prioritize agenda governments aligning early detection with other current programs will maximize efficiencies.
Language: Английский
Citations
0
Clinical Case Reports, Journal Year: 2025, Volume and Issue: 13(4)
Published: April 1, 2025
ABSTRACT RMND1‐ related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing value of testing uncovering kidney‐related conditions have high degree clinical heterogeneity.
Language: Английский
Citations
0
American Journal of Transplantation, Journal Year: 2024, Volume and Issue: unknown
Published: Oct. 1, 2024
Language: Английский
Citations
2
Kidney International, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 1, 2024
Language: Английский
Citations
0
Kidney International Reports, Journal Year: 2024, Volume and Issue: 10(3), P. 673 - 695
Published: Dec. 28, 2024
Language: Английский
Citations
0