Reflux nephropathy.

Dillon, M J; Goonasekera, Cda

doi:10.1681/asn.v9122377

Cited by 61 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1,2 VUR occurs most often in isolation, but can arise in conjunction with more complex defects, such as hydronephrosis and renal dysplasia. [3][4][5] VUR has a prevalence of 1%-2% in European populations [6][7][8][9] and is much more prevalent in females (.70%), although males predominate in patients diagnosed between 0 and 2 years of age. 10,11 VUR is highly familial, with a reported occurrence rate of 27%-51% among siblings, and 66% among offspring of affected individuals.…”

mentioning

confidence: 99%

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Verbitsky¹,

Krithivasan²,

Batourina³

et al. 2021

JASN

View full text Add to dashboard Cite

BackgroundVesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood.MethodsA diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR. A GWAS was performed in 1395 patients and 5366 controls, of European ancestry.ResultsAltogether, 3% of VUR patients harbored an undiagnosed rare CNV disorder, such as the 1q21.1, 16p11.2, 22q11.21, and triple X syndromes ((OR, 3.12; 95% CI, 2.10 to 4.54; P=6.35×10−8) The GWAS identified three study-wide significant and five suggestive loci with large effects (ORs, 1.41–6.9), containing canonical developmental genes expressed in the developing urinary tract (WDPCP, OTX1, BMP5, VANGL1, and WNT5A). In particular, 3.3% of VUR patients were homozygous for an intronic variant in WDPCP (rs13013890; OR, 3.65; 95% CI, 2.39 to 5.56; P=1.86×10–9). This locus was associated with multiple genitourinary phenotypes in the UK Biobank and eMERGE studies. Analysis of Wnt5a mutant mice confirmed the role of Wnt5a signaling in bladder and ureteric morphogenesis.ConclusionsThese data demonstrate the genetic heterogeneity of VUR. Altogether, 6% of patients with VUR harbored a rare CNV or a common variant genotype conferring an OR >3. Identification of these genetic risk factors has multiple implications for clinical care and for analysis of outcomes in VUR.

show abstract

mentioning

confidence: 99%

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Verbitsky¹,

Krithivasan²,

Batourina³

et al. 2021

JASN

View full text Add to dashboard Cite

show abstract

“…As renal scarring progresses, the risk of developing hypertension increases. About 25% of RN patients seek medical advice with hypertension (Dillon M J & Goonasekera C D., 1998).…”

Section: Hypertensionmentioning

confidence: 99%

Progress in the Research of Reflux Nephropathy

Tian

Xiao

Tang

et al. 2023

CRMS

View full text Add to dashboard Cite

Reflux nephropathy (RN) is a renal disease caused by Vesicoureteral Reflux (VUR) and Intrarenal Reflux (IRR), resulting in renal cortical scar (localized atrophy) and focal glomerulosclerosis. RN is one of the important causes of end-stage renal diseases (ESRD). The most basic pathological feature of RN is kidney scarring. Common clinical manifestations are persistent or recurrent urinary tract infection, albuminuria, hypertension, nocturia, polyuria, lumbago, urinary calculi, etc. Due to the hidden condition of RN, doctors in various departments, especially in pediatrics, nephrology and urology, must strengthen their understanding and understanding of this disease, so as to facilitate the early detection and diagnosis of this disease. Correct conservative treatment of Western medicine, surgical treatment when necessary, and reasonable integrated treatment of Chinese and Western medicine are of great significance for the prevention and treatment of the progression from RN to ESRD.

show abstract

Cellular and molecular determinants of normal and abnormal kidney development

Tham

Smyth

2018

WIREs Developmental Biology

View full text Add to dashboard Cite

Kidneys are bilateral organs required to maintain homeostasis in the body through the regulation of fluid composition and the excretion of metabolic waste products. The initial steps in organ development are characterized by cellular interactions which regulate both the position and number of kidneys formed. Once established, further development is driven by orchestrated interactions between progenitor cell populations which serve to establish both nephrons—the functional unit of the organ which filters the blood—and the complex ramified collecting duct system which transports urine to the bladder. The delicate balance involved in these processes is reflected in the emerging family of genetic or environmental factors which, when perturbed, give rise to defects in organ development or function later in life. This article is categorized under: Vertebrate Organogenesis > From a Tubular Primordium: Branched Birth Defects > Organ Anomalies

show abstract

Reflux nephropathy.

Cited by 61 publications

References 0 publications

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Progress in the Research of Reflux Nephropathy

Cellular and molecular determinants of normal and abnormal kidney development

Contact Info

Product

Resources

About