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renal agenesis

Joanna L Kaplan, Catherine T Gunther-Harrington, Jessie S Sutton, Joshua A Stern
BACKGROUND: The teratogenic effects of immunomodulatory and certain antimicrobial therapies are described in small rodents and humans. While the described teratogenic effects in small rodents have been extrapolated to make conclusions about its use in the pregnant dam, teratogenic effects of prednisone and doxycycline have not yet been reported in the dog. Here we report and describe midline defects observed in a litter of golden retriever puppies exposed to mid-gestational immunosuppressive and antimicrobial therapy...
March 12, 2018: BMC Veterinary Research
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
María Del Mar Roca-Rodríguez, María Carmen Ayala-Ortega, Ana Isabel Jiménez-Millán, María Concepción García Calzado, María Soledad Ruiz de Adana, Florentino Carral-San Laureano
INTRODUCTION: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. PATIENTS AND METHODS: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. RESULTS: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect...
March 7, 2018: Medicina Clínica
Kaiyong Liang, Xiaojuan Ou, Xukai Huang, Qunfang Lan
RATIONALE: Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies. PATIENT CONCERNS: We report the case of a 23-year-old Chinese woman who visited the Department of Endocrinology and Metabolism with insulin-dependent diabetes but no specific symptoms, signs, or other deformities...
March 2018: Medicine (Baltimore)
Adriana Moreira, André Carvalho, Inês Portugal, José Miguel Jesus
Dorsal pancreatic agenesis is a very rare congenital anomaly. Unilateral renal agenesis, on the other hand, is a relatively common congenital anomaly, although its etiology is not fully understood. Renal and pancreatic embryologic development appears to be nonrelated. We report a case of a 34-year-old man who was referred to our hospital for evaluation of cholestasis and microalbuminuria. Ultrasound and magnetic resonance imaging examinations showed empty right renal fossa and absence of the pancreatic neck, body, and tail...
February 2018: Radiology Case Reports
E C Akinsal, N Baydilli, M E Dogan, O Ekmekcioglu
Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work-up or follow-up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study...
February 27, 2018: Andrologia
Herui Wang, Chi Zhang, Xiaowen Wang, Yaru Lian, Bin Guo, Miao Han, Xiaoe Zhang, Xiaoting Zhu, Sixian Xu, Zengli Guo, Yunli Bi, Qian Shen, Xiang Wang, Jiaojiao Liu, Yuan Zhuang, Ting Ni, Hong Xu, Xiaohui Wu
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci ( HNF1B , PAX2 , EYA1 , etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 and enhances the transcriptional activity of SIX1/EYA1, a key regulatory complex of the GDNF morphogen...
2018: International Journal of Biological Sciences
Wojciech Wieclawek
BACKGROUND: Image segmentation is an essential and non trivial task in computer vision and medical image analysis. Computed tomography (CT) is one of the most accessible medical examination techniques to visualize the interior of a patient's body. Among different computer-aided diagnostic systems, the applications dedicated to kidney segmentation represent a relatively small group. In addition, literature solutions are verified on relatively small databases. The goal of this research is to develop a novel algorithm for fully automated kidney segmentation...
February 27, 2018: Biomedical Engineering Online
Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid, Majid Alfadhel
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations...
2018: Application of Clinical Genetics
M Alexandra Friedman, Liza Aguilar, Quetrell Heyward, Carol Wheeler, Anthony Caldamone
BACKGROUND: Mullerian anomalies have a known association with renal agenesis yet, to date, there are no formal recommendations for screening women with certain renal anomalies for associated genital tract disorders. OBJECTIVE: The objective of this study is to review current data regarding the association between renal and Mullerian anomalies, and propose screening recommendations. STUDY DESIGN: A comprehensive review of the literature was performed to identify relevant articles using the keywords "unilateral renal agenesis," "renal anomalies," and "Mullerian anomalies...
February 9, 2018: Journal of Pediatric Urology
Bao T Nguyen, Katherine L Dengler, Rhiana D Saunders
Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies. Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Her medical history was significant for a bicuspid aortic valve and right radial dysplasia...
February 5, 2018: Military Medicine
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
February 6, 2018: Journal of Human Genetics
Hanah Z Nasri, Kara Houde Ng, Marie-Noel Westgate, Anne-Therese Hunt, Lewis B Holmes
BACKGROUND: Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used to identify all malformed infants in a consecutive sample of births, can identify a distinctive pattern of malformations among the affected infants. METHODS: The infants of insulin-dependent, pregestational diabetic mothers were identified in the daily review of the medical records of each newborn infant with a malformation and her/his mother's medical record...
January 2018: Birth defects research
Roxana Cleper
Solitary functioning kidney (SFK) occurs with unilateral renal agenesis (URA) in 1/2000 live births - or after uninephrectomy for tumor, trauma, uncontrolled infections or hypertension and post-kidney donation. URA-associated states include urological, cardiac, gastrointestinal and skeletal anomalies or it might be a component of a genetic syndrome. In 10% of cases of URA another family member is affected. In any case of SFK a compensatory process is triggered consisting of glomerular hypertension with hyperfiltration which achieves 75% of two kidneys' function...
January 2018: Harefuah
Sanjay Sinha, Mehul A Shah, Dilip M Babu
Introduction: Sacral agenesis (SA) is a caudal regression anomaly that can cause neurogenic bladder but is not generally recognized as high risk. We studied the clinical presentation, upper urinary tract, bone and spine abnormalities, and urodynamic findings in patients with SA and compared them with related high-risk conditions, anorectal malformation (ARM), and cloacal malformation. Materials and Methods: Patient records between May 2011 and December 2015 were identified and grouped into isolated SA without an overt anomaly (Group I), SA with overt caudal regression anomalies (Group II), and ARM or cloacal malformation without the SA (Group III)...
January 2018: Indian Journal of Urology: IJU: Journal of the Urological Society of India
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
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
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
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
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
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