Publications by authors named "L Guay-Woodford"
The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor the patient population where this should be deployed has been defined, and its value in kidney transplant evaluation has not been demonstrated. Transplant providers may not always be aware of the limitations of genetic testing and may need guidance on comprehending test results and providing counsel, as many centers do not have easy access to a renal genetic counselor or a clinical geneticist.
View Article and Find Full Text PDFBACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).
View Article and Find Full Text PDFAutosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the gene, which encodes the fibrocystin/polyductin (FPC) protein. MYC overexpression has been proposed as a driver of renal cystogenesis, but little is known about MYC expression in recessive PKD.
View Article and Find Full Text PDFArticle Synopsis
- - The study examined the safety and effectiveness of tolvaptan for preserving kidney function in children (ages 5-17) with autosomal dominant polycystic kidney disease (ADPKD), where assessing disease progression risk was initially not included due to unvalidated criteria.
- - Four pediatric nephrologists reviewed baseline data from 90 participants and rated the risk of rapid disease progression, finding 77% of ratings were concordant, with a mean rating of 3.5 indicating significant risk in older age groups (15-17 years).
- - The reviewers identified key characteristics for assessing risk—such as age, kidney imaging, kidney function, blood pressure, urine protein levels, and genetics—highlighting the feasibility
Introduction: Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from detection to post-natal nephrology management remains to be established.
Aim Of The Work: We sought to evaluate the presentation and transition planning for infants identified with bilateral renal cystic disease.