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renal agenesis

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https://www.readbyqxmd.com/read/29321944/myelomeningocele-with-unilateral-right-renal-agenesis-a-case-report
#1
Hajime Maeda, Hayato Go, Jun Sakuma, Takashi Imamura, Maki Sato, Nobuo Momoi, Mitsuaki Hosoya
Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, unilateral right renal agenesis represented a significant surgical risk because failure of the remaining kidney could result in renal failure...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29320483/microarray-analysis-in-pregnancies-with-isolated-unilateral-kidney-agenesis
#2
Lena Sagi-Dain, Idit Maya, Peleg Amir, Reches Adi, Ehud Banne, Hagit N Baris, Tenne Tamar, Amihood Singer, Shay Ben-Shachar
OBJECTIVE: To examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney. METHODS: Data acquisition was performed retrospectively by searching Israeli Ministry of Health computerized database. All cases having chromosomal microarray analysis (CMA) referred due to an indication of isolated unilateral kidney agenesis between January 2013 and September 2016 were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9792 cases and local data of 5541 pregnancies undergoing CMA due to maternal request...
January 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29279782/a-singleton-infant-with-bilateral-renal-agenesis-and-normal-pulmonary-function
#3
Lovya George, Winston Manimtim, Jotishna Sharma
Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases of survival beyond 2 months. We describe the first case of a singleton infant with bilateral renal agenesis who had normal pulmonary function and did well on peritoneal dialysis for 4 years while awaiting a renal transplant...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#4
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#5
Maria Livia Ognean, Laura Corina Zgârcea, Laura Bălănescu, Oana Boantă, Raluca Elena Dumitra, Florin Grosu, Dan Georgian Bratu, Adrian Gheorghe Boicean, Liliana Coldea, Radu Chicea
BACKGROUND: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF. CASE PRESENTATIONS: The authors are analyzing a series of seven cases of EA with distal TEF...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29217372/acute-peritoneal-dialysis-in-neonatal-intensive-care-unit-an-8-year-experience-of-a-referral-hospital
#6
Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman
BACKGROUND: The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. METHODS: This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files...
November 16, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29215523/ethical-considerations-concerning-amnioinfusions-for-treating-fetal-bilateral-renal-agenesis
#7
REVIEW
Jeremy Sugarman, Jean Anderson, Ahmet A Baschat, Jaime Herrera Beutler, Jessica L Bienstock, Timothy E Bunchman, Niraj M Desai, Elena Gates, Aviva Goldberg, Paul C Grimm, Leslie Meltzer Henry, Eric B Jelin, Emily Johnson, Christine B Hertenstein, Anna C Mastroianni, Mark R Mercurio, Alicia Neu, Lawrence M Nogee, William J Polzin, Steven J Ralston, Ronald M Ramus, Megan Kasimatis Singleton, Michael J G Somers, Karen C Wang, Renee Boss
Congenital bilateral renal agenesis has been considered a uniformly fatal condition. However, the report of using serial amnioinfusions followed by the live birth in 2012 and ongoing survival of a child with bilateral renal agenesis has generated hope, but also considerable controversy over an array of complex clinical and ethical concerns. To assess the ethical concerns associated with using serial amnioinfusions for bilateral renal agenesis, we assembled a multidisciplinary group to map the ethical issues relevant to this novel intervention...
January 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29204238/crossed-fused-renal-ectopia-case-report-and-review-of-the-literature
#8
Anna Mudoni, Francesco Caccetta, Maurizio Caroppo, Fernando Musio, Antonella Accogli, Maria Dolores Zacheo, Maria Domenica Burzo, Vitale Nuzzo
Crossed fused renal ectopia is a rare congenital anomaly, and is mostly detected incidentally. A 45-year-old man, during investigation for recurrent abdominal pain, was found to have an empty left renal fossa and right crossed renal ectopia with fusion on ultrasonography. In the present case, there were no abnormalities and/or alteration of the renal function. Abdominal tomography scan with contrast medium confirmed the diagnosis. Ectopic kidney is often associated with other abnormal situations such as agenesis, vascular malformation, incontinence, a palpable abdominal mass, urinary tract infection, high incidence of stone formation, and genital anomalies...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#9
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29193896/in-utero-ultrasound-diagnosis-of-corpus-callosum-agenesis-leading-to-the-identification-of-orofaciodigital-type-1-syndrome-in-female-fetuses
#10
Caroline Alby, Lucile Boutaud, Maryse Bonnière, Sophie Collardeau-Frachon, Laurent Guibaud, Estelle Lopez, Ange-Line Bruel, Bernard Aral, Pascale Sonigo, Philippe Roth, Claude Vibert-Guigue, Vanina Castaigne, Bruno Carbonne, Nicole Joyé, Laurence Faivre, Marie-Pierre Cordier, Antoinette Bernabe Gelot, Maurizio Clementi, Isabella Mammi, Michel Vekemans, Féréchté Razavi, Marie Gonzales, Christel Thauvin-Robinet, Tania Attié-Bitach
BACKGROUND: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis...
November 28, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29154793/trends-in-urologic-indications-for-pediatric-renal-transplantation-over-a-27-year-period-unos-database
#11
Pankaj Dangle, Utsav Bansal, Rajeev Chaudhry, Glenn M Cannon, Francis X Schneck, Michael C Ost
OBJECTIVE: To elucidate the trends in urological causes for renal transplant in the pediatric population using a national database. Little is known about the specific pediatric urologic conditions and resultant trends that precede renal transplantation. MATERIAL AND METHODS: We reviewed the United Network for Organ Sharing (UNOS) database for pediatric patients (<18 years old) who underwent renal transplantation from January 1988- September 2015. We included those patients who received a renal transplant due to a urologic condition...
November 14, 2017: Urology
https://www.readbyqxmd.com/read/29122828/referrals-to-a-perinatal-specialist-palliative-care-consult-service-in-ireland-2012-2015
#12
Des L McMahon, Marie Twomey, Maeve O'Reilly, Mary Devins
OBJECTIVE: To analyse the referral patterns of perinatal patients referred to a specialist palliative care service (SPCS), their demographics, diagnoses, duration of illness, place of death and symptom profile. DESIGN: A retrospective chart review of all perinatal referrals over a 4-year period to the end of 2015. SETTING: A consultant-led paediatric SPCS at Our Lady's Children's Hospital, Crumlin, Dublin, and the Coombe Women & Infants University Hospital, Dublin...
November 9, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29120500/oral-healthcare-in-fraser-syndrome
#13
Y Hassona, H Kharoub, C Scully
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22-year-old girl with Fraser syndrome, and discuss the dental management.
September 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#14
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29108145/framing-the-conversation-for-exploring-innovative-techniques-in-therapy-the-example-of-bilateral-renal-agenesis
#15
William Polzin
No abstract text is available yet for this article.
2017: Issues in Law & Medicine
https://www.readbyqxmd.com/read/29103260/-seminal-vesicle-abscess-associated-with-zinner-syndrome
#16
Sohei Kuribayashi, Go Tanigawa, Yohei Okuda, Masataka Kawamura, Nozomu Kishimoto, Kentaro Takezawa, Koichi Tsutahara, Tetsuya Takao, Seiji Yamaguchi
We report a case of seminal vesicle abscess associated with Zinner syndrome. A 26-year-old male was admitted to our hospital because of fever and right scrotal swelling. Ultrasound showed an enlarged epididymis and color Doppler ultrasound showed increased vascularity in the epididymis. We diagnosed the case as acute epididymitis and started intravenous antibiotic therapy. Four days after admission, remittent fever persisted and blood culture was positive for Staphylococcus aureus. We performed computed tomography, which showed a right seminal vesicle cyst abscess and right renal agenesis...
October 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#17
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29100090/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#18
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29094488/maternal-report-of-fever-from-cold-or-flu-during-early-pregnancy-and-the-risk-for-noncardiac-birth-defects-national-birth-defects-prevention-study-1997-2011
#19
Dorothy Kim Waller, Syed Shahrukh Hashmi, Adrienne T Hoyt, Hao T Duong, Sarah C Tinker, Michael Shayne Gallaway, Richard S Olney, Richard H Finnell, Jacqueline Tauber Hecht, Mark A Canfield
BACKGROUND: As maternal fever affects approximately 6-8% of early pregnancies, it is important to expand upon previous observations of an association between maternal fever and birth defects. METHODS: We analyzed data from the National Birth Defects Prevention Study, a multistate, case-control study of major structural birth defects. Telephone interviews were completed by mothers of cases (n = 17,162) and controls (n = 10,127). Using multivariable logistic regression, we assessed the association between maternal self-report of cold or flu with fever and cold or flu without fever during early pregnancy and 30 categories of non-cardiac birth defects...
November 2, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29089677/unilateral-renal-agenesis-with-subseptate-uterus-and-sacrococcygeal-teratoma-a-unique-triad
#20
Muhammad S Ahmed, Sheeza Imtiaz, Hina Pathan, Rahila Usman
Unilateral renal agenesis (URA) is a rare condition with a reported incidence of 0.93-1.8 per 1000 autopsies. It is commonly diagnosed as an incidental finding on imaging. URA is frequently associated with other genitourinary anomalies. Different associations have been described in both males and females, however, to our knowledge, it has not been reported with subseptate uterus (SSU) and sacrococcygeal teratoma (SCT) in the same individual. Here, we present a unique case of URA with SSU and SCT.
July 2017: Indian Journal of Radiology & Imaging
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