Retrospective evaluation of children with unilateral renal agenesis
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05027-6
Abstract: Children born with unilateral renal agenesis (URA) are thought to have a risk of developing hypertension, proteinuria, and progressive chronic kidney disease (CKD). The present study aimed to evaluate the long-term prognosis and clinical characteristics… read more here.
Keywords: unilateral renal; renal agenesis; blood pressure; hypertension ... See more keywords
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Nephrology"
DOI: 10.1007/s40620-020-00795-0
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are… read more here.
Keywords: agenesis; novel loss; renal agenesis; loss function ... See more keywords
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome
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DOI: 10.1007/s42000-018-0061-1
Abstract: Dear Editor, Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare Mendelian disorder characterized by genetic and phenotypic heterogeneity. Apart from failure of sexual maturation and pubertal development (i.e., the normosmic form of idiopathic hypogonadotropic… read more here.
Keywords: kallmann; renal agenesis; kallmann syndrome; unilateral renal ... See more keywords
Diagnosis, management, and outcome of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome): Is there a correlation between MRI findings and outcome?
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DOI: 10.1016/j.clinimag.2019.11.013
Abstract: AIM To review the experience of a single tertiary center with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) and evaluate if MRI findings correlate with outcome. METHODS Patients (n = 32) diagnosed with OHVIRA syndrome between… read more here.
Keywords: renal agenesis; ohvira syndrome; ipsilateral renal; mri ... See more keywords
Preventing the O in OHVIRA (Obstructed Hemivagina Ipsilateral Renal Agenesis): Early Diagnosis and Management of Asymptomatic Herlyn-Werner-Wunderlich Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2019.06.006
Abstract: INTRODUCTION Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare variant of Mullerian ductal anomaly associated with ipsilateral renal agenesis. Most patients are diagnosed after menarche with complications of uterovaginal obstruction, genitourinary infection and pelvic adhesions. Patients often… read more here.
Keywords: agenesis; renal agenesis; early diagnosis; management ... See more keywords
Tubulocystic anomalies of the mesonephric duct associated with ipsilateral renal dysgenesis.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric urology"
DOI: 10.1016/j.jpurol.2018.07.021
Abstract: INTRODUCTION Renal agenesis and multicystic dysplastic kidney (MCDK) are usually associated with either an absent or atretic ureter. Occasionally, these renal anomalies may be associated with a dilated tortuous ureter, ureterocele or other cystic malformation… read more here.
Keywords: renal agenesis; mesonephric duct; ureteric bud; mnd ... See more keywords
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis
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DOI: 10.1111/cge.14128
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation… read more here.
Keywords: agenesis; renal agenesis; null founder; founder variant ... See more keywords
Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-246955
Abstract: We present a rare case of Klinefelter syndrome who presented with perinatal ascites, unilateral renal agenesis and a prostatic utricle cyst. The patient was born at term via emergency Caesarean section with gross abdominal distension.… read more here.
Keywords: unilateral renal; cyst; klinefelter syndrome; prostatic utricle ... See more keywords
Unilateral scrotal discomfort in a patient with known renal agenesis: do not forget about Zinner syndrome
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DOI: 10.1136/bcr-2021-248468
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A 25yearold patient was referred by his physician to our radiology department for a scrotal ultrasound (US) because… read more here.
Keywords: duct; ejaculatory duct; seminal vesicle; renal agenesis ... See more keywords
Unique Medley of Cardinal Veins: Duplicated Superior and Inferior Venae Cavae With Left Renal Agenesis and Hemiazygos Continuation of Left Inferior Vena Cava With Drainage Into Left Atrium
Sign Up to like & getrecommendations! Published in 2022 at "Vascular and Endovascular Surgery"
DOI: 10.1177/15385744211051493
Abstract: Congenital anomalies of the superior and inferior vena cava result from abnormal embryogenesis of cardinal veins. Duplication of superior vena cava (SVC) occurs in 0.3% of the general population of which only 8% drain into… read more here.
Keywords: inferior vena; left atrium; renal agenesis; vena cava ... See more keywords
Bilateral Renal Agenesis: Redefining Complex Palliative Care Across the Continuum of a Shifting Disease Paradigm
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DOI: 10.1542/peds.146.1_meetingabstract.215-a
Abstract: Introduction: Bilateral renal agenesis was historically labeled “lethal” as pulmonary hypoplasia from chronic anhydramnios results in life-limiting respiratory failure at birth. Recently, the first case of long-term survival for an infant with bilateral renal agenesis… read more here.
Keywords: palliative care; renal agenesis; care across; bilateral renal ... See more keywords