Successful endovascular embolization of large symptomatic congenital renal arteriovenous fistula in an octogenarian.

J Vasc Surg Cases Innov Tech

Department of Vascular Surgery, Heart and Vascular Institute, Penn State Health, Milton S. Hershey Medical Center, Hershey, Pa.

Published: December 2019

Congenital renal arteriovenous fistula (rAVF) is a rare and often underdiagnosed clinical condition. Here, we present a case of a large congenital rAVF in an 81-year-old woman with a right flank bruit and high-output heart failure. The rAVF was successfully treated with percutaneous endovascular coil embolization. Complications included a small right renal hematoma, mild contrast-induced nephropathy, and small right renal infarct in the lower pole. Postoperatively, the patient had complete resolution of symptoms with salvage of the kidney. She has been observed annually for 5 years with computed tomography scan and ultrasound examination.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806647PMC
http://dx.doi.org/10.1016/j.jvscit.2019.07.001DOI Listing

Publication Analysis

Top Keywords

congenital renal
8
renal arteriovenous
8
arteriovenous fistula
8
small renal
8
successful endovascular
4
endovascular embolization
4
embolization large
4
large symptomatic
4
symptomatic congenital
4
renal
4

Similar Publications

Unravelling the case of suspected ectopic ureter in a young adult patient.

Radiol Case Rep

March 2025

Department of Radiology, Hasan Sadikin Academic Medical Center-Faculty of Medicine, University of Padjadjaran, Jatinangor, Indonesia.

An ectopic ureter (EU) opens outside the bladder's trigone, a rare condition with an incidence of 0.05%-0.025%.

View Article and Find Full Text PDF

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Am J Kidney Dis

January 2025

Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:

Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.

View Article and Find Full Text PDF

Background: Birth defects are associated with childhood cancer, but little is known regarding pediatric carcinomas, a group of especially rare tumors.

Methods: We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95 % confidence interval (CI) for any carcinoma, as well as thyroid, hepatocellular, and renal carcinoma specifically, up to 18 years of age among children with major, non-syndromic anomalies or chromosomal/genetic syndromes, relative to unaffected children.

Results: Our registry-linkage study included nine states and 21,933,476 children between 1990 and 2018: 641,827 with non-syndromic anomalies, and 49,619 with syndromes.

View Article and Find Full Text PDF

Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.

View Article and Find Full Text PDF

Novel mutations related to simultaneous congenital nephropathy and ovarian insufficiency.

Clin Kidney J

January 2025

Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy, Beijing, China.

Nucleoporins, as major components of nuclear pore complex, have been recently discovered to participate in organ development. Here, we report a young female patient with nephrotic proteinuria resistant to immune suppressant treatment and congenital ovarian insufficiency. Renal pathology confirmed focal segmental glomerulosclerosis and whole-exome sequencing revealed compound heterozygous mutations in Nucleoporin 160 (), NM_015231.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!