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renal agenesis

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https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#1
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28303733/bi-parametric-magnetic-resonance-imaging-applied-to-obstetrics
#2
Lucia Manganaro, Valeria Vinci, Antonella Giancotti, Sandro Gerli, Denis A Cozzi, Teresa Pusiol, Michele Scialpi, Luca Roncati
Foetal magnetic resonance imaging (MRI) plays an increasingly important role in the diagnosis of foetal abnormalities. Over the years, we have successfully applied bi-parametric MRI (bp-MRI) to the following obstetric conditions: (1) neurologic vascular diseases; (2) assessment of lung parenchyma maturation; (3) renal pathologies, such as polycystic kidney, suspected renal infarction, unilateral or bilateral renal agenesis; (4) placental pathologies, as twin-twin transfusion syndrome or placenta accreta; (5) benignant and malignant congenital tumours or cysts of the liver, such as haemangioendothelioma, hepatoblastoma or metastatic neuroblastoma, of the kidney (e...
March 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28287880/does-the-serum-uric-acid-level-have-any-relation-to-arterial-stiffness-or-blood-pressure-in-adults-with-congenital-renal-agenesis-and-or-hypoplasia
#3
Raziye Yazici, İbrahim Guney, Lutfullah Altintepe, Mehmet Yazici
BACKGROUND: The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. MATERIAL AND METHODS: In this single center, cross-sectional study, a total of 55 patients (39 (% 70...
2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28278526/-acute-kidney-failure-due-to-urachal-cyst
#4
I Klaassen, M Wolf, M J Kemper, S Riechardt, M Boettcher, J Herrmann, D Singer
A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Postnatal adaptation was uneventful, but the newborn presented external stigmas of trisomy 21 and progressive renal impairment with anuria. Nevertheless, the postnatal ultrasound showed two enlarged kidneys in loco typico with impaired perfusion but without signs of malformations...
March 9, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#5
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28263220/ectopic-pelvic-fibroid-in-a-woman-with-uterine-agenesis-and-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#6
Thelina Amaratunga, Iain Kirkpatrick, Yi Yan, Fern Karlicki
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the müllerian ducts. Women with this syndrome have the normal 46 XX karyotype, normal female secondary sex characteristics, and primary amenorrhea. Only a few cases have been described in the literature where a fibroid develops from a rudimentary, nonfunctioning uterus in patients with MRKH syndrome. In even rarer instances, a fibroid can develop in patients with a congenitally absent uterus...
March 3, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28258603/incidence-of-an-aberrant-right-subclavian-artery-on-second-trimester-sonography-in-an-unselected-population
#7
Selen Gursoy Erzincan, Burcin Karamustafaoglu Balci, Cengiz Tokgoz, Ibrahim Halil Kalelioglu
OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1...
March 4, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28228879/zinner-syndrome-diagnosed-by-magnetic-resonance-imaging-and-computed-tomography-role-of-imaging-to-identify-and-evaluate-the-uncommon-variation-in-development-of-the-male-genital-tract
#8
V Fiaschetti, L Greco, V Giuricin, D De Vivo, E Di Caprera, R Di Trapano, F Castellani, R Floris
Seminal vesicle cysts are a very rare condition and its often associated with ipsilateral renal agenesis. The diagnosis of seminal vesicle cysts may be delayed or missed because of the non-specific symptoms of this condition. This article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 56 years old man.
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28222038/evidence-based-ethically-justified-counseling-for-fetal-bilateral-renal-agenesis
#9
Alana N Thomas, Laurence B McCullough, Frank A Chervenak, Frank X Placencia
BACKGROUND: Not much data are available on the natural history of bilateral renal agenesis, as the medical community does not typically offer aggressive obstetric or neonatal care asbilateral renal agenesis has been accepted as a lethal condition. AIM: To provide an evidence-based, ethically justified approach to counseling pregnant women about the obstetric management of bilateral renal agenesis. STUDY DESIGN: A systematic literature search was performed using multiple databases...
February 21, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28208931/pseudo-exstrophy-of-bladder-with-unilateral-renal-agenesis-a-rare-combination-of-two-anomalies
#10
Abdolhamid Amouei, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare combination of two anomalies. She was born at 37 weeks gestational age with caesarean section delivery. The X-ray of hip revealed pubic diastasis. Ultrasonography clearly showed absence of the left kidney with a normal right kidney. The patient was treated successfully with proper surgical management...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203451/case-report-a-rare-cause-of-complicated-urinary-tract-infection-in-a-woman-with-herlyn-werner-wunderlich-syndrome
#11
Jun-Li Tsai, Shang-Feng Tsai
INTRODUCTION: Urinary tract infection is a common disease in the general population. However, in patients with frequent urinary tract infection, it is important to determine any treatable cause to avoid recurrence. CASE PRESENTATION: Herlyn-Werner-Wunderlich syndrome or OHVIRA syndrome is a very rare congenital anomaly with uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The earliest presentation of this syndrome is hematocolpos that develops during menstruation and results in dysmenorrhea and a pelvic mass shortly after menarche...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#12
REVIEW
Stacy Rosenblum, Abhijeet Pal, Kimberly Reidy
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT are a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Prenatal imaging is useful to identify CAKUT, but will not detect all defects. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development...
February 1, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28108134/-early-kidney-damage-in-patients-born-with-unilateral-renal-agenesis
#13
Ana Castellano-Martinez, Moises Rodriguez-Gonzalez, Virginia Roldan-Cano
No abstract text is available yet for this article.
January 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28003020/vertebral-defect-anal-atresia-cardiac-defect-tracheoesophageal-fistula-esophageal-atresia-renal-defect-and-limb-defect-association-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-in-co-occurrence-two-case-reports-and-a-review-of-the-literature
#14
Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen
BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27965957/22q11-deletion-syndrome-and-urogenital-manifestations-a-clinicopathological-case-report
#15
M Vachette, G E Grant, J Bouquet de la Joliniere, M Jotterand, N Ben Ali, A Feki, R Capoccia Brugger
BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#16
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#17
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#18
Pablo Naval-Baudin, Elena Carreño García, Ana Sanchez Marquez, Joana Valcárcel José, Natalia M Romero
The association of ipsilateral renal agenesis and cystic seminal vesicle is a rare congenital syndrome described by Zinner in 1914. The cases of two patients with this syndrome are presented, one of them associated with infertility, the other with cryptorchidism and testicular pain. A brief review of the literature is undertaken, regarding the main clinical and imaging implications, and the developmental anomalies that are involved in this unusual congenital anomaly are analyzed.
December 1, 2016: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#19
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27794475/constitutional-560-49%C3%A2-kb-chromosome-2p24-3-duplication-including-the-mycn-gene-identified-by-snp-chromosome-microarray-analysis-in-a-child-with-multiple-congenital-anomalies-and-bilateral-wilms-tumor
#20
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton
Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor...
December 2016: European Journal of Medical Genetics
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